A
H
S
The BloodLetter
Issue # 3 October, 1999
Official Online Newsletter of the American Hemochromatosis Society (AHS)
Editor: Sandra Spangler
Richard
Paul
Maguire
T
his issue is dedicated in memory
of Richard Paul Maguire of Glendale, Arizona. Age
40. Born: May 10, 1958, Tarrytown, New York Died:
February 22, 1999 in Tucson, Arizona. Richard had
no severe symptoms until he entered Thunderbird hospital with shortness of breath and was told he had a
1958-1999
virus in his heart. Eight days later he died at University Medical Center in Tucson. Diagnosis: Hemochromatosis at autopsy. He is survived by his wife, four
children, two sisters, one brother and his parents.
CONTENTS:
*Message From AHS President Founder AHS Sandra Thomas
*AHS PREVENTION Ad Warns 3 Million Readers About HH
*Letter To The Editor From James MacPherson, America’s Blood Centers
*Editorial: National Committee On Genetic Testing A Chance To Highlight HH As
“Good News” Condition
*Meet Sandra Spangler, BloodLetter Editor. Ending Confusion of the Sandras of AHS
*ABC News: “Iron Not Always Good For The Heart”
*New Links Found Between An “Iron” Gene Mutation And Increased Risk For Heart
Attack And Stroke With Comment By Jerome L. Sullivan, MD
*Letter Hemochromatosis and Vitamin C Victor Herbert, MD JD
*New England Journal Of Medicine: Reports On Hereditary Hemochromatosis
*HH In The News
*American Hemochromatosis Society (AHS) To Exhibit At
The American Society Of Hematology (ASH) Convention December 3 to 7, 1999
*Hemochromatosis Survey: We Still Need Your Help!
*BloodLetter Memorial Tributes
*Hemochromatosis Centers National Listing: University of Pennsylvania
*Reserve This Date! January 15, 2000 Free UPMC HH Seminar & Blood Screening
*New AHS Chapters Forming
*Online Donations Now Possible To AHS!
*Josephine Bogie Thomas Memorial Fund Update
*DNA Testing: Labs Offer Kits To Test for HH At Home
*AHS Announces Toll Free Information Hotline At: 1 (888) 655—Iron (4766)
*Children HHelping Children Screening & Awareness Project Update
*AOL HH Discussion/Support Group
*New Hemochromatosis Announcement List
*Rick Press, MD Sets Medical Guidelines for HH Diagnosis and Treatment
*AHS Basics for Diagnosis and Treatment by Sandra Thomas
*AHS Board Members & Medical Advisory Board
Message From AHS President Founder
Sandra Thomas
“The Road Back Home”....
The month of September 1999, found my father, Joe Thomas; AHS vice
president, David Snyder; and me on the road, heading home to Delray
Beach, Florida from our temporary home in Pittsburgh, PA. (July 1998 to September
1999) where we moved last year to try to help my mother who had been diagnosed with
stage 4 primary liver cancer due to Hereditary Hemochromatosis (HH) iron overload. As
most of you know, she passed away on May 13, 1999, and we gave up our apartments in
Pittsburgh, and started our sad trek back to Florida without her, determined in the future to increase awareness about HH in the American public as my mother had wanted
us to do.
Thank you Pittsburgh
We want to thank the citizens of Pittsburgh who were so very friendly, kind, and outgoing to us during our stay there, Pittsburgh was a city full of warm and caring people who
made us feel that we were surrounded by friends even though they were all strangers to
us. We will always hold warm feelings in our hearts for the people of Pittsburgh.
Leaving on September 8th, we traveled from Pittsburgh through the mountains of West
Virginia and Virginia. The beautiful and restful scenery gave us time to quietly reflect on
the meaning of the past year and the battle my mother had waged against
hemochromatosis.....and lost. We took our time on the road, stopping often to “smell the
roses” on the way back. On September 16th, we arrived in Washington, D.C. the same
day that Hurricane Floyd did, but fared well at our hotel.
Meeting with Alliance of Genetic Support Groups
On September 20th, David Snyder and I met with Mary Davidson, Executive Director of
the Alliance of Genetic Support Groups (of which AHS is a member) and had a very
enjoyable time getting to know her and meeting the staff at the Alliance office and discussing the many issues surrounding genetic diseases. The morning of September 21st,
David Snyder and I met with Spencer Perlman, assistant to Congressman John Porter
and discussed HH issues and how Congress could help all HH patients. Special emphasis
was made concerning genetic discrimination and funding for HH screening of all Americans.
“Ovarian Cancer: Silent No more”
On September 22nd, David Snyder and I attended a reception of the Ovarian Cancer
National Alliance (OCNA), whose second annual advocacy conference “Ovarian Cancer:
Silent No More” was being held that week, September 22-25 at the Washington Court
Hotel. As a member of the OCNA, I was very interested in hearing their speakers and
talking with other members about ovarian cancer and its possible relationship to HH.
You see, my mother, Josephine Bogie Thomas, had ovarian cancer which was diagnosed
in 1983; during that work up, she was also diagnosed with HH (a CT and MRI were the
first confirmation of her diagnosis). The conference staff of OCNA also kindly allowed
AHS to distribute and display our free educational materials at their conference; none of
the attendees to whom I spoke had ever heard of HH and were shocked to learn how
prevalent and serious it was. I attended several seminars on ovarian cancer during this
conference and would be happy to share any of the information I gathered at the conference with anyone who would like to discuss this topic with me.
I particularly enjoyed the seminar by Dr. Gordon Mills of MD Anderson Cancer Center
in Houston, Texas, who discussed new screening strategies for ov ca which would give
earlier stage diagnoses resulting in better treatment outcomes for ov ca patients. David
Sndyer and I attended a reception on the 23rd, where members of Congress brought
greetings to the group and expressed many concerns about issues which also concern HH
patients. Issues such as genetic discrimination, funding for research for genetic diseases,
and public awareness of genetic diseases. Among those speaking at the reception were
Senator Connie Mack and Senator Olympia “Snowe, as well as others who gave rousing
speeches to much applause by those in attendance. The bottom line is early detection
which means careful monitoring by all women for ovarian cancer. This would include an
annual pelvic exam, a CA-125 blood test, (and a new, more sensitive blood screening test
is on the horizon), and a transvaginal ultrasound of the ovaries. These are a few of the
ways to get an early diagnosis which is highly treatable, as opposed to a late stage diagnosis which is difficult to successfully treat and even cure. In my mother’s case, even
though she had advanced ov ca, she was able to overcome this disease and live another 16
years. It was the late diagnosis of HH, that led to her ultimate death in May. She fought
hard for her life against the ov ca, and then had to lose it to primary liver cancer because
she had cirrhosis of the liver at diagnosis of HH I urge all women to learn more about the
OCNA and to visit their web site at: http://www.ovariancancer.org or call them at:
202-331-1322.
AHS Vice President David Snyder Attends Hearing on Blood Supply
On September 23rd, David Snyder attended the House Commerce Oversight and Investigations Subcommittee hearing in Washington, D.C. on the availability and safety of the
blood supply in the United States and specifically the issue of blood donations from hemochromatosis patients. Chairman of the meeting was Congressman Upton (R-Mich.). David
has been following this issue very closely and staying in touch with Victor Herbert, MD
JD, AHS medical advisory board member who petitioned the FDA about HH blood use by
the blood banking system in the USA. Patients have been contacting AHS to try to learn
how to facilitate their local blood banks to apply for a waiver from the FDA so that they
can take blood from HH patients, however, even though this hurdle has seemed to be
overcome, no one seems to know exactly how to convert the HH patient into the “community donor”. There are evidently still snags “in the system” and it will be a while before
local blood banks open their doors to HH patients “officially” and permit them to knowingly donate blood at this point, but it is inevitable in the near future as soon as they
“work out the kinks” in the system. AHS will keep you posted on this situation as it
evolves.
AHS Brochures Displayed at DC NORD Conference
On September 30th, AHS had educational brochures, “What Every Senior Should Know
about Hereditary Hemochromatosis” and “The ABC’s of Pediatric Hereditary Hemochromatosis” distributed and displayed at the annual conference of the National Organization for Rare Disorders, Inc. (NORD) at the Doubletree Hotel in Arlington, Virginia. Visit
NORD’s web site at: http://www.rarediseases.org or call them at: 203-746-6518.
Bittersweet Homecoming
We arrived at our home in Delray Beach, Florida on October 4th, in time to observe my
father’s 85th birthday on October 5th, and mine on October 14th. Thanks to all who sent
birthday greetings to us. It was a bittersweet homecoming. Although it is good to be back
home, it has been very difficult going through all of my mother’s things. Her passion for
spreading the word about HH is everywhere, her AHS business cards in all her purses,
folded up articles on HH tucked away in her car, her purse, anywhere ready to hand out
to someone, anyone who would listen. Three articles on the Josephine Bogie Thomas
Memorial Fund appeared in local newspapers in September: The Delray Beach Boca Raton
News Society Monday section; The Sun Sentinel Society Line section; and the Palm Beach
Post Notables section. We thank these newspapers for publishing this information about
AHS and my mother’s work with HH.
Nominee for Boca Raton Junior League Woman Volunteer of the Year
On October 8th, I represented AHS as a nominee for the Boca Raton Junior League’s
Woman Volunteer of the Year. This annual event took place at the Boca Raton Hotel and
Resort and had nearly 1000 attendees. It was an honor to participate in this event this
year (my mother was nominated two times in the past for her work with HH awareness)
and it was an excellent way to get the word out in the community about AHS through the
programs that were distributed to all attendees. For details on the Woman Volunteer of
the Year event and a photo of Sandra Thomas and other members of the Junior League of
Boca Raton who were nominees please go to: http://jlbr.org/thelink.htm#1099wvoy
AHS Representative to Soroptimist Community Service Breakfast honoring
Women of Distinction
On October 13th, I represented AHS in the Boca Raton Deerfield Beach Soroptimist Women
of Distinction Awards (for community service) Breakfast. Another excellent opportunity
to get the name of AHS in the public eye through their program. This event had 450
attendees and at our table we were pleasantly surprised to find an HH patient with
whom I had corresponded by email! After the breakfast, another person came up to me
and said that she had a close friend who had HH and would very much like our educa-
tional materials.
Trapped in Twister Spun by Hurricane Irene
Despite the approaching Hurricane Irene, on Friday, October 15th, my father and I decided to brave the weather and go out and get our flu and pneumonia shots at a local
doctor’s office (a reminder to all HH patients and those caring for them to check with
their doctors about getting these shots, and NO you do not have to be older than 65 years
old to get them!). After leaving the doctor’s office in Boca Raton, we realized we were
totally unprepared for the hurricane, let alone what was about to happen to us on our
way home. My dad and I drove right into the path of a small twister! That’s right, as in
tornado! It was like nothing was there, just a strong rainfall, and then suddenly it was
upon us, no funnel cloud, no roaring train sound, just suddenly a wall of rain and winds
so fast that I really
can’t describe the
sound...the trees were
bent over to the
Twister in Delray Beach
ground, ready to snap
and become projectiles only a few yards
away, and the car
“For a few seconds, I
shimmied and shook
like that pick up truck
thought ‘THIS IS IT’...”
in “Close Encounters of
the 3rd Kind”. For a
“...the car shimmied and shook
few seconds, I thought
“This is it” and that
like that pick up truck in ‘Close
my dad and I were going to see my mom a
Encounters of the 3rd Kind’...”
lot sooner than we
thought. Thank God
we were OK. A truck
nearby was overturned with the driver
in it but he was all
right. I drove up next to a woman in a SUV at a stoplight nearby and motioned for her to
roll down her window. She had not been far from me when this blinding wall of rain and
debris suddenly struck us. I asked her, “Wasn’t that a tornado, twister, we just went
through?” and she nodded and said that she was so freaked out she didn’t know what to
do; she was shaking all over. Dave was driving another car about 15 minutes behind us;
by the time he drove through the same area we had been, he said there were police cars,
the local TV station van was there, etc. and the headlines in the Palm Beach Post the
next day read that a tornado had hit Delray Beach right where my dad and I had been
driving, so yes, it was a twister and we were in the middle of it! The debris was swirling
all around us in a circle, that’s when it hit me that this could be a tornado, I searched the
sky for a funnel or something, but within split seconds the full force of it hit our car and
shook it like a baby rattle. I’ll never forget that experience! Hurricane Irene didn’t seem
to be headed for us, it was a Category 1, and then everything changed. Later on the day
of the twister, the winds were howling wildly all night, we didn’t have power for 24 hours,
we were running around trying to find batteries, most of which were dead from just
sitting around for so long, flashlights, candles, candleholders, water, etc. We were able to
find enough things to get us through the night, and now the power is back on and things
are being worked on around the neighbor, to get things back to normal. We were very
lucky compared with some of the people not far from where we live.
Now that we are home, we are busy organizing everything and getting AHS set up
again in Delray Beach. There is much work to do and many plans in the works. As
you can imagine, there is a tremendous amount of work to get things “back to normal”
again, and it will take months to do this. Please bear with us as we work to get every-
thing up and running again in Florida.
“Genetics in the New Millennium: Meeting the Challenges” Alliance of Genetic
Support Groups Annual Conference, Washington DC
On November 12-15, David Snyder and I plan to attend the Alliance of Genetic Support
Groups Annual Conference, “Genetics in the New Millennium: Meeting the Challenges”
at the Key Bridge Marriott Hotel in Arlington, Virginia. We will present AHS at a poster
session and attend seminars and a Congressional Breakfast on Capitol Hill sponsored by
Senator Edward M. Kennedy (D-MA). Keynote speakers will include: Daniel S. Goldin,
Administrator, NASA; David Satcher, MD, PhD, US Surgeon General (“Genetics in the
New Millennium”); and Steve Groft, PharmD, Director of Rare Diseases, NIH. On Nov.
15th, the speaker will be Francis S. Collins, MD, PhD, Director, National Human Genome Research Institute, NIH (“Translating Genetics into Public Policy and Quality
Healthcare”). Visit the Alliance web site at: http://www.geneticalliance.org
Thanks again to all of you who continue to send your love and support to my family
and me during this difficult time. Even though it has been 5 months since my mother’s
death, the wounds are still fresh in my mind. The battle for HH awareness and screening continues, I have only begun to fight.
Sandra Thomas, President, American Hemochromatosis Society (AHS)
AHS Prevention Ad To Warn 3 Million Readers About HH
A full page ad will appear on page 152 in the December 1999 issue of PREVENTION
magazine which will be available to subscribers on November 1st and on the stands for
the public by November 16th. This ad was made possible by a donation by Joe B. Thomas
to the Josephine Bogie Thomas Memorial Fund/AHS. This ad will reach nearly 3 million
readers. Be sure to pick up a copy and share it with your family and friends!
LETTERS TO THE EDITOR
James MacPherson Of America’s Blood Centers Responds To BloodLetter
Article On FDA Rule Change Allowing HH Patients To Donate Blood
Dear BloodLetter:
Our sincere congratulations to all people with Hemochromatosis (HC) for their victory in
helping to remove the obstacles for many of them to become volunteer blood donors.
America’s Blood Centers, which represents the independent community blood centers
that provide about half of the US blood supply, has long advocated for this policy change.
The last obstacles were to remove special government labeling requirements and any
financial incentives so that eligible people with HC can be volunteer blood donors.
The recommendations approved late last month by an advisory committee of the Department of Health and Human Services will, when implemented, allow blood programs to
accept donations from otherwise healthy people with HC if the blood program also offers
free phlebotomies to those who do not qualify as donors. The estimate is that 30 to 50%
of people with HC can become volunteer donors. This may help with blood shortages that
plague some areas of the country. This policy change is voluntary and a blood center can
elect not to implement it (for example, if the center’s computer system is unable to safely
comply with government requirements for tracking and separating volunteer donations
from therapeutic phlebotomies).
While it’s been a long and hard fought struggle, BloodLetter’s readers need to be patient.
This change in policy will take some time to implement. First, the US Food and Drug
Administration (FDA) must issue implementation instructions on this policy. We expect
that those instructions will require blood centers to set up tracking systems to safely
allow volunteer donations from eligible people with HC and securely isolate phlebotomies from those who do not qualify as donors. Development and validation of those systems must follow strict FDA rules and will take some time to complete. Blood centers
also need to obtain variances from FDA so that volunteer donations from people with HC
do not need any special labeling, and so that people with HC can give blood more frequently than waiting the current FDA-required 56 day interval between donations. As
we know, some people with HC need a phlebotomy as frequently as every week or so.
Finally, the standards of the American Association of Blood Banks, which many states
have adopted as their regulations, need to be changed or waived to allow volunteer donations from people with HC.
While all this may seem to be just so much “red tape”, the systems in place assure that all
Americans have access to one of the world’s safest blood supplies. Changes need to be
done carefully so that accidents don’t happen (such as accidentally transfusing blood
from a person with HC who is not eligible to be a blood donor).
The good news for everyone is that the changes long advocated to allow blood donations
by people with HC may soon be here. People with HC curious about the progress of the
changes should contact their local blood centers. Call 1-888-BLOOD88 to locate your
nearest community blood center. Thank you.
Sincerely,
/s/
Jim MacPherson
Executive Director
America’s Blood Centers
Editors Note:
The BloodLetter has learned from one of the AHS Medical Advisory Board Members that
America’s Blood Centers published an article in the September 17 issue of the ABC Newsletter by James MacPherson entitled “On Blood Donation by Hemochromatosis Patients.”
Under the title appears an Editor’s note as follows:
“Last month’s announcement by the FDA of a new policy on donation by people with
hemochromatosis prompted many calls from these individuals asking when they could
become blood donors. To set the record straight, ABC sent the following letter to the
editor of the American Hemochromatosis Society’s newsletter , The BloodLetter.”
EDITORIAL
National Committee On Genetic Testing
A Chance To Highlight HH As “Good News” Condition
You have an extraordinary opportunity to impact national public policy on issues of
urgent importance to HH patients and their families.
In June, Donna E. Shalala, Health and Human Services Secretary, appointed a 13-member committee to help the department make policies on the “development, validation and
regulation of genetic tests.” The committee is studying a variety of complex medical, ethical, legal and social issues raised by genetic testing. Public perspectives on genetic testing will be considered at its next meeting to be held October 25-26 in Washington DC.
AHS is working to focus attention on the necessity for DNA tests as a tool for diagnosing
hereditary hemochromatosis. It may seem a shock to you who know how HH has devastated your families to realize that not even genetic organizations and counselors automatically realize that HH is a condition for which early diagnosis with genetic and blood
screening prevents life-threatening disease. It is up to us to make this an urgent priority!
The ethical issues of genetic testing in medical circles typically focus on the pain caused
by revealing genetic conditions for which there may be no treatment or cure. Some recent
articles in the media have tended to reinforce the public’s fear of testing. And other articles have focused on the expense or cost-effectiveness of testing. DNA tests for HH are
an affordable $125, unlike the test for the breast cancer gene which costs about $2200.
AHS emphasizes that hemochromatosis must be set apart; it should not be placed in the
same category as incurable genetic diseases and conditions, but given full recognition as
the most common hereditary condition in the United States according to the Centers for
Disease Control and Prevention (CDC), for which a treatment exists to prevent disease
and early death.
Every day AHS learns of more people whose doctors are not aware that HH is a common
disorder. Just today I learned of a case where even in spite of elevated blood levels of
transferrin saturation % and ferritin, fatigue, mild heart attack and inability to work,
the doctor would not allow the patient lifesaving weekly phlebotomies until a family member became assertive. We need to make the policy makers know that more lives will be on
the line until policies change.
Let’s make the most of this opportunity! The committee needs to hear from you about
how HH has affected your lives. Let them know if you feel you have been discriminated
against. They need personal stories to know of the anger and frustration you feel when
you or a family member have been misdiagnosed or diagnosed too late to prevent disease
and death. They need to be aware of why genetic testing has helped you to convince your
doctor that you need proper treatment. And they need to know how you have taken advantage of AHS for on-line education and support. We invite researchers and medical
professionals who support the HH community to share your experience with the commit-
tee. We urge all of you to share compelling stories with members of the committee. Two
thousand stories would grab the committee’s attention.
I believe that members of the committee should be exposed to the AHS position on genetic testing to expand what they will hear from the only HH expert on the panel. Wylie
Burke, MD, Ph.D., a member of this committee, whose scientific research includes hemochromatosis, who has said it is premature to recommend widespread DNA testing for HH
because more studies are needed. AHS responds to the immediate needs of real people
and can demonstrate that DNA testing has proven its value many times over as a lifesaving diagnostic tool. AHS recognizes that current DNA tests identify 85-90% of the cases
of HH and supports the continued research that has begun to uncover additional mutations. AHS also favors the proper use of blood tests which are vital to monitoring iron
storage, and prompt treatment to prevent organ damage.
I have identified six key committee members including their e-mail address or toll-free
number, who because of their training, family experience, research focus, background in
preventive medicine, genetics, medical ethics, counseling or expertise with children and
youth, who may be willing to listen to reasoned arguments favorable to genetic testing for
HH, as they weigh the overall advantages or disadvantages of genetic testing, and who
have the power to recommend whether the government should allow genetic testing to
proceed. We need to make them aware that if the committee decides to restrict the availability of testing they could be sacrificing many lives which otherwise could have been
saved.
Mary Davidson, M.S.W., Executive Director, Alliance of Genetic Support Groups, Washington, D.C. Ms. Davidson, a clinical social worker and psychotherapist by training, is an
experienced community organizer, social outreach program innovator, and consumer
advocate. She leads a national coalition of consumers, professionals and genetic support
groups that serves as a voice for the common concerns of children, adults and families
living with, and at risk for, genetic conditions. Through her work and her own personal
experience, Ms. Davidson has gained deep insights into the impact of genetic disorders
on individuals and families.
Email: [email protected]
The chairman is Edward R. B. McCabe, MD, Ph.D., Professor and Executive Chair,
Department of Pediatrics, University of California, Los Angeles (UCLA), and Physician-in-Chief of the Mattel Children’s Hospital at UCLA. Dr. McCabe is an internationally recognized authority in medical genetics and biochemical genetics. He developed
molecular genetic strategies for confirmatory diagnosis in newborn screening for sickle
cell disease and cystic fibrosis, among others.
Email: [email protected]
Ann Happ Boldt, M.S., Certified Genetic Counselor, Maternal Fetal Medicine and Genetics Center, St. Vincent Hospital, Indianapolis, Ind. Ms. Boldt is trained in genetic
counseling and certified by the American Board of Medical Genetics. Her current focus is
on the provision of prenatal, cancer, and pediatric genetic counseling services and the
training of genetic counseling students, medical residents, and other health care professionals. Ms. Boldt is a past president of the National Society of Genetic Counselors and a
charter member of the American Board of Genetic Counseling. Toll—free 1-877-636-4788
Barbara A. Koenig, Ph.D., Executive Director, Center for Biomedical Ethics and CoDirector, Program in Genomics, Ethics and Society, Stanford University, Palo Alto,
Calif. Dr. Koenig is a medical anthropologist by training; she works in the interdiscipli-
nary field of biomedical ethics. Her research has explored cultural/ethnic pluralism and
ethical decision-making in clinical practice, ethical issues in health promotion and disease prevention, and the social and ethical impact of presymptomatic genetic testing.
Email: [email protected]
Web page: http://www.stanford.edu/dept/scbe/koenig.htm
Judith A. Lewis, Ph.D., R.N., Associate Professor, Department of Maternal Child Nursing and Director of Information Technology, School of Nursing, Virginia Commonwealth
University, Richmond, Va. Dr. Lewis’ academic interests are in the area of infertility,
ethical aspects of reproductive technology, and genetics and genetics testing. Her family
was deeply affected by heritable genetic disease and involved in founding cystic fibrosis
patient support and advocacy efforts in New England.
Email: [email protected]
Victor Penchaszadeh, MD, Sc.M., Professor of Pediatrics, Albert Einstein College of
Medicine, Yeshiva University, and Chief, Division of Medical Genetics, Beth Israel
Medical Center, New York, N.Y. Dr. Penchaszadeh is an expert in medical genetics, ge-
netic testing, and public health. He has directed clinical programs, conducted research on
a variety of genetic disorders, and explored a range of ethical and cross-cultural issues
and policy questions in the provision of genetic services.
Email: [email protected]
Look up for the full text of the press release which introduces each of the 13 committee
members on the web at http://www.nih.gov/od/orda/sacgtpress.htm
Secretary’s Advisory Committee on Genetic Test
Seize the opportunity. Write the committee.
Sandra Spangler, Editor
ENDING THE CONFUSION ABOUT THE SANDRAS OF AHS
ENDING THE CONFUSION ABOUT THE SANDRAS OF AHS
Meet Sandra Spangler, Editor Of The BloodLetter
B
loodLetter Editor, Sandra Spangler, is the mother of a 25 year old
diagnosed at age 22 with hemochromatosis in 1996 by a routine blood
panel at a student health clinic during an initial check up under the college group health plan. The family, fearing irreversible liver or heart damage, had never heard of hemochromatosis and never suspected that their
then 22-yr old who had no symptoms, had a genetic condition that could
have been undetected for so long. A liver biopsy was used for diagnosis
since the genes had just been discovered and no test was available.
Sandra met Sandra Thomas, AHS/President Founder online. Soon afterward, she decided to use her experience as a teacher, political scientist
and journalist to spread HH awareness. Sandra Spangler specializes in legislative and
insurance issues as a board member and officer in the American Hemochromatosis Society. She founded the first AHS Chapter in Tucson, Arizona and serves as AHS Chapter
Coordinator.
ABC NEWS: “IRON NOT ALWAYS GOOD FOR THE HEART”
ABC News on the web leads with a story based on two articles that appeared in the
September 21, 1999 issue of Circulation, Journal of the American Heart Association.
Researchers in the Netherlands found that heterozygotes (carriers of the single gene for
HH) had double the risk of dying from a heart attack or stroke. The web page has links to
the AHS web page and a RealVideo clip by Steve Fox, ABC correspondent who was recently diagnosed with HH. Read more about it at:
http://abcnews.go.com:80/sections/living/DailyNews/heart_iron990920.html
ABCNEWS.com : Iron Not Always Good for Heart
Abstracts:
Circulation. 1999;100:1268-1273.
Clinical Investigation and Reports: Heterozygosity for a Hereditary Hemochromatosis
Gene Is Associated With Cardiovascular Death in Women
Roest, Mark , MSc; Yvonne T. van der Schouw, PhD; Bart de Valk, MD; Jo J. M. Marx,
MD, PhD; Mariëlle J. Tempelman, BSc; Philip G. de Groot, PhD; Jan J. Sixma, MD,
PhD; Jan Dirk Banga, MD, PhD
http://circ.ahajournals.org/cgi/content/abstract/100/12/1268
Circulation — Abstracts: Roest et al. 100 (12)…
Circulation. 1999;100:1268-1273
Clinical Investigation and Reports: Increased Risk of Acute Myocardial
Infarction in Carriers of the Hemochromatosis Gene Cys282Tyr Mutation
A Prospective Cohort Study in Men in Eastern Finland
Tuomainen,Tomi-Pekka, MD; Kimmo Kontula, MD, PhD, Kristiina Nyyssönen,
PhD,Timo A. Lakka, MD, PhD, Tiina Heliö, MD, PhD; Jukka T. Salonen, MD, PhD,
MScPH
http://circ.ahajournals.org/cgi/content/abstract/100/12/1274
Circulation — Abstracts: Tuomainen et al. 100 …
_________________________________________________________
From ScienceDaily
New Links Found Between An “Iron” Gene Mutation
And Increased Risk For Heart Attack And Stroke
Source: American Heart Association http://www.americanheart.org/ Posted 9/22/
99
This article features the research about heart risks to the one in eight heterozygotes who
carry the HH gene reported in Circulation with quotes from an editorial by AHS Medical Advisory Board Member, Dr. Jerome L. Sullivan “Iron and the Genetics of Cardiovascular Disease” (Circulation 1999 100: 1260-1263).
Dr. Sullivan, clinical assistant professor at the University of Florida in Gainesville, who
proposed a link between iron and coronary disease almost 20 years ago acknowledges
that although “many important unresolved questions” remain, the new evidence supports voluntary blood donation as a means of depleting iron stores in the body. The American Heart Association believes “research involving the hemochromatosis gene mutation
raises some interesting questions, further study is needed before the organization could
make widespread recommendations concerning screening for the defective gene or riskreduction methods for those who are found to carry the hemochromatosis gene mutation.”
This article supports the benefits of genetic testing to pinpoint heart risks:
“A new genetic test that is now available offers scientists a more precise method for determining if carriers of the gene mutation are at increased risk for heart disease. Researchers needed a genetic test to study carriers of the gene. Carriers often have a small
elevation in their iron storage levels that may be responsible for the observed increase in
heart attacks. Carriers are rarely aware of their status and usually have no symptoms
until a heart attack or stroke occurs. “
http://www.sciencedaily.com/releases/1999/09/990922050907.htm
ScienceDaily Magazine — New Links Found Betwee…
LETTER
HEMOCHROMATOSIS AND VITAMIN by Victor Herbert, MD JD
In a Letter to the Editor of the Annals of Internal Medicine, AHS Medical Advisory Board
Member Victor Herbert, MD JD emphasizes that “ This toxic quantity [500mg of Vitamin
C] will accelerate both organ damage and sudden fatal cardiac arrhythmias.” For full text
of go to:
http://www.acponline.org/journals/annals/21sep99/hemo.htm
LETTER: Hemochromatosis and Vitamin C, Annals 2…
New England Journal Of Medicine:
Reports On Hereditary Hemochromatosis:
Abstracts from The New England Journal of Medicine — September 2, 1999 —
Vol. 341, No. 10
N Engl J Med 1999;341:718-24
A Population-Based Study of the Clinical Expression of the
Hemochromatosis Gene
Olynyk, John K. , Digby J. Cullen, Sina Aquilia, Enrico Rossi, Lesa Summerville,
Lawrie W. Powell
http://www.nejm.org/content/1999/0341/0010/0718.asp
Original Articles — NEJM 1999; 341: 718-724
N Engl J Med 1999;341:725-32
Hereditary Hemochromatosis in Adults without Pathogenic Mutations
in the Hemochromatosis Gene
Pietrangelo, Antonello , Giuliana Montosi, Angela Totaro, Cinzia Garuti, Dario Conte,
Stefano Cassanelli, Mirella Fraquelli, Carla Sardini, Francesco Vasta, Paolo Gasparini
http://www.nejm.org/content/1999/0341/0010/0725.asp
Original Articles — NEJM 1999; 341: 725-732
HH In the News
Barbara Gottsleben, Assistant Director of the Tucson Chapter of AHS
was interviewed for a feature story about HH for the Tucson Citizen
newspaper. Already the story is having an impact on the community.
The Chapter is hearing from people excited to find help is available and
hungry for life-saving information. Read her story on the web at:
http://www.tucsoncitizen.com/healing_arts/health_medicine/archive/99/
10_20_99hemo.html
American Hemochromatosis Society (AHS) To Exhibit At The
American Society of Hematology (ASH) Convention
December 3 to 7 1999
The American Hemochromatosis Society will exhibit at the American Society of Hematology (ASH) medical convention on December 3 to 7, 1999 in New Orleans, LA. Our
booth number will be # 543. Those wishing to volunteer to help us man our booth
should contact Sandra Thomas or David Snyder at: 561-266-9037 or email:
[email protected] The hours are: Saturday, December 4, 1999 11:45 am to 7:30pm Sunday, December 5, 1999 10am to 6pm. Monday, December 6, 1999 11:30am to 6pm. You
will need to let us know as soon as possible if you plan to volunteer as you will need to
be registered with ASH and have a name tag which identifies you as an official representative of the American Hemochromatosis Society and allow you entry into the ex-
hibit hall. All volunteers must provide their own lodging and cover their own expenses
such as travel and meals, etc. own lodging and cover their own expenses such as travel
and meals, etc.
The Ham-Wasserman Lecture at the ASH convention this year will feature James P.
Kushner, MD, University of Utah Medical Center, Salt Lake City, UT on Saturday December 4, 1999, 12:30pm-1:30pm. The topic is “New Clinical and Molecular Aspects
of Hemochromatosis.” Those wishing to attend this lecture will need to register with
ASH as a non member and pay a fee of $250.00 per person which will entitle them to
attend all scientific lectures. Last year, the ASH convention attracted more than 15,000
doctors and researchers from around the country and world and they are expecting an
even bigger attendance this year. For more information, please visit the ASH web site at:
http:// www.hematology.org or call: 202-857-1118.
Hemochromatosis Survey: We Still Need Your Help!
Calling all hemochromatosis patients! If you have hereditary hemochromatosis/iron overload, we are asking your help with a survey being conducted by the University of Pittsburgh Medical Center (UPMC) and the American Hemochromatosis Society. You may
have received this survey in the past, or thought the deadline was past, but we are still
accepting these surveys as the deadline has been extended. Please, if you still have the
survey, complete it and return it as soon as possible. If you don’t have a survey, never got
one, or threw the one you had away, please email us at: [email protected] with your mailing
(not email) address and we’ll send you a survey. The survey regards alternative medicine
use by HH patients. Even if you do not use alternative medicine, we need your input, so
please send us your address. Thank you for your help! Doctors having HH patients who
might wish to participate, please contact us and let us know how many surveys you wish
and to what address to send them.
BloodLetter Memorial Tributes
The first issue of the BloodLetter was dedicated to Josephine Bogie Thomas, AHS board
member and the mother of AHS founder/president, Sandra Thomas. Each newsletter will
be dedicated in the form of a memorial tribute to a victim of hereditary hemochromatosis.
If you have a family member/loved one/friend who has died from hereditary hemochromatosis and would like for a newsletter to be dedicated in their memory, please email
Sandra Thomas at: [email protected] or Editor, Sandra Spangler at:
[email protected] Please include the person’s name as you would like
for it to appear, the dates and places of birth/death (this is optional), the patient’s age at
death, and a short account of their struggle with HH. If you can email, or mail, a photo of
the person, this cannot be returned, so please do not send an original copy.
Hemochromatosis Centers National Listing
University of Pennsylvania
In our last issue we featured the University of Washington Hemochromatosis Center
devoted to screening and treating hereditary hemochromatosis/iron overload patients.
This issue we are featuring the Hemochromatosis Center at the University of Pennsylvania in Philadelphia, Pennsylvania directed by Chris Friedrich, MD.
You may visit their web page at:
http://www.med.upenn.edu/penngen/cond/hemochro.html
The University of Pennsylvania Hemochromatosis Clinic performs patient and family
evaluations, and arranges phlebotomy treatments. Educational lectures on hemochromatosis and screening programs for physicians and laymen are also available.
Financial Billing Information. The clinic participates in Medicare, medical assistance,
and most major insurers and health maintenance organizations in the Delaware Valley.
Members of HMOs are reminded they need a referral from their primary care provider
for their visit to be covered by the HMO. Financial counseling regarding billing questions
is available by telephone before a visit, or in the clinic at the time of the visit.
APPOINTMENTS: Penn Health Line, University of Pennsylvania Health System,
1-800-789-PENN (1-800-789-7366)
Medical Genetics Division
Department of Medicine
Hospital of the University of Pennsylvania
1 Maloney Bldg.
Philadelphia, PA 19104-4283
Fax: (215) 614-0298
URL: http://www.med.upenn.edu/penngen/
Penn Genetics
University of Pennsylvania
University of Pennsylvania Health System
Reserve This Date! January 15, 2000
Free UPMC HH Seminar & Blood Screening
Could excess iron be the reason for your medical problems?
Do you have Hereditary Hemochromatosis Iron Overload? (Too much iron in the body)
Free Seminar & Free Blood Screening sponsored by UPMC-HS Saturday, January 15,
2000-10am to 12 noon
LHAS Auditorium in Montifiore Hospital
Reservations: 412-647-UPMC (8762)
Presentation by Geoffrey Block, MD, Director of the UPMC-HS Hemochromatosis and
Iron Overload Center & Monica E. Yamamoto, DrPH, RD, FADA
Hereditary Hemochromatosis (iron overload disease) is the most common genetic disease
in the U.S.A. according to the Centers for Disease Control and Prevention (CDC). Are
you are one of the 1.5 million Americans who unknowingly has this condition? Most
people are not yet diagnosed or getting life-saving treatments.
Do you have, or have a family history of, any of these symptoms or risk
factors?:
Arthritis Joint Pain Fibromyalgia Joint replacement
Chronic Fatigue Syndrome Weakness Anemia Hypothyroidism
Impotence, Early menopause, Irregular periods, Infertility,
Depression, Anxiety, Mental confusion, Memory loss, Multiple blood transfusions,
Diabetes, High blood sugar, Darkening of the skin without exposure to the sun,
Heart Disease, Heart Attack, Irregular heartbeat , Heart failure,
Tinnitus, Hair loss, Weight loss, Set off airport metal detectors, Take iron pills,
Ancestry of Celtic (Irish Scottish) British Northern European origin
Liver disease, hepatitis, cirrhosis, primary liver cancer, elevated liver
enzymes, jaundice or yellow skin or eyes/dark urine/nose bleeds/red
palms/abdominal pain
These conditions, in some cases, can be symptoms of iron overload Hereditary Hemochromatosis (HH). Find out if your medical condition may be caused by another underlying cause, excess stored iron in vital body organs.
FREE blood screening for transferrin saturation (TS) after the seminar.
You will receive a telephone call with your test results which can be
forwarded to your personal physician if you wish.
Reservations are a must as seating is limited. No admission charge. For more information, directions, and registration, please call: 412-647-UPMC (8762) Refreshments
will be served. All patients and family members/friends are welcome! For appts. with
Dr. Block, please call the HH Center at UPMC at: 412-647-1500.
New AHS Chapters Forming
New chapters of the American Hemochromatosis Society are forming all over
the U.S.A. If you are interested in forming an AHS chapter in your community, please
contact AHS chapter coordinator, Sandra Spangler at:
[email protected]
Location and contact person for AHS chapters are as follows:
Arizona
Tucson, Arizona—Sandra Spangler—Email: [email protected]
California
San Francisco, California—Susan Klingaman—Email: [email protected]
Connecticut
Stamford, Connecticut—John Henderson—Email: [email protected] FAX:
203-968-8435
Delaware
Newark, Delaware—Karen Kolmonen—Email: [email protected]
Florida
Palm Beach County—David Snyder and Sandra Thomas (co leaders) Email:
[email protected]
Georgia
Karen Armand
Atlanta, Georgia—Karen Armand—Email: [email protected]
Missouri
Jim Williams
Kansas City, Missouri—Jim Williams—Email: [email protected]
New York
Chris Reilly
New York, New York—Chris Reilly—Email: [email protected]
Ohio
Cindy Munn, RN
Columbus, Ohio—Cindy Munn, RN—Email: [email protected]
Online Donations Now Possible To AHS!
Online donations to the American Hemochromatosis Society are now possible through
the web site at: www.americanhs.org/donations.html The web site uses a secure line
for major credit cards. All donations are tax deductible. AHS is a 501(c)3 non profit
organization. Donations fund educational materials, brochures, and video presentations
on hereditary hemochromatosis and support our ongoing presentation of an international
web page on the Internet and telephone support to patients and family members around
the country. Membership is only $20, so please become a member of AHS.
Josephine Bogie Thomas Memorial Fund Update
The Josephine Bogie Thomas Memorial Fund has been established in memory of the
mother of AHS founder president Sandra Thomas. Josephine was diagnosed with hereditary hemochromatosis in 1983 at the age of 62 and died at the age of 78 on May 13,
1999. Of Irish, Scottish, British and French ancestry, Josephine had the double cys282
mutation. Her dying wish was that everyone in this country be tested for HH iron overload. This fund will help to spread the word about testing, especially in the elderly.
Josephine founded the “Seniors HHelping Seniors” SHHS ™ screening and awareness
project to identify and diagnose seniors with hereditary hemochromatosis. Her work will
continue on through this memorial fund and the work of her daughter, Sandra Thomas.
Those who wish to make a donation to the JBT Memorial Fund may send their donation
payable to “AHS” and notate JBT Memorial Fund to: AHS, 777 East Atlantic Avenue,
PMB Z-363, Delray Beach, Florida 33483-5352. Thanks to all of those who have already
made a donation.
DNA Testing For Hereditary Hemochromatosis
Lab Offers Kits To Test for HH At Home
Genetic DNA testing for hereditary hemochromatosis (HH) is growing in popularity! More
and more people are testing themselves, their parents, their siblings, and their children
to learn their genetic risk factor for HH. This is a wise thing to do as it helps alert those
in the family who are at high risk for HH to be closely monitored during their lives,
including childhood. DNA test kits used at home are very popular, no pain, blood, or
needles involved, and you don’t need a doctor’s order to get the kits mailed to your home
or office. AHS recommends Kimball Genetics lab in Denver, Colorado for DNA testing for
the following reasons: accredited lab, fastest turnaround on results (24 hours after receipt of DNA sample), no doctor’s order needed, results faxed to your MD or DO the day of
results, cost is $125.00 for the first test and $110 for each test after that, you may order
as many kits as you wish at one time for family distribution, the lab will test children and
infants, testing of minor children is easy with cheek brush method, genetic counseling
included in the price of testing. Their toll free number is: 1-800-320-1807. The test kits
are available to patients in the USA and foreign countries. In Denver or outside the USA
call: 303-320-1807.
The American Hemochromatosis Society Announces
Toll Free Information Hotline 1(888) 655 IRON (4766)
This line has basic information on iron overload hereditary hemochromatosis, so tell your
relatives, friends and the media—call anytime 24 hours a day. This service has been
made possible by an anonymous donation to AHS. Thank you!
Children HHelping Children Screening & Awareness
Project Update
The “Children HHelping Children” Screening & Awareness Project founded by Sandra
Thomas is continuing to grow. With more than 20 children identified as having the
genotype and phenotype for HH, the CHHC™ project is proving that children can and do
get iron overload during their childhood years (2 years to 18 years old). Children as
young as 4 and 5 years old are having phlebotomy (bloodletting) treatments (the amount
of blood removed is based on the weight/age of the child) which are helping to reduce
elevated liver enzymes and iron storage levels. If you would like to have your children be
a part of the CHHC™ project, please contact Sandra Thomas at: [email protected]
AOL HH Discussion—Support Group
For those of you who would like to discuss HH with other patients, there is an AHS Iron
Overload HH support and chat group on America Online moderated by Sandra Thomas
on Monday nights at 9pm ET. The AOL chat group meets in a private room on AOL and
a password is necessary, so please email Sandra at: [email protected] for the password.
New Hemochromatosis Announcement List
A professional news announcement list has been set up by Philip de Sterke to provide
monthly updates full articles on hemochromatosis news. The list allows no discussion.
News items can be sent it to [email protected]
You can join this list by going to the following web page:
http://www.onelist.com/subscribe.cgi/hemochromatosis
Rick Press, MD Sets Medical Guidelines
For HH Diagnosis And Treatment
Download this article by Richard Press, MD which gives a thorough explanation of the
genetics of HH. This is an excellent article to give to your physician to emphasize more
up-to-date methods of HH diagnosis and treatment.
MOLECULAR MEDICINE FOR CLINICIANS: Hemochromatosis: A “Simple”
Genetic Trait by Richard D. Press, Oregon Health Sciences University
http://www.hosppract.com/genetics/9908/mmcpress.htm
Hospital Practice: Hemochromatosis
Another Update for Physicians:
Mayo Clin Proc. 1999: 74-917-921
Update on Hereditary Hemochromatosis and the HFE Gene
Brandhagen, David J. MD, Fairbanks, Virgil F. MD et.al.
http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/
query?uid=10488796&form=6&db=m&Dopt=b
PubMed medline
AHS Basics For Diagnosis And Treatment by Sandra Thomas
*Do not simply ask your doctor to test you for iron overload hereditary hemochromatosis,
but rather ask for these blood tests by name: serum iron, etc. Remember hematocrit (hct.)
and hemoglobin (hgb) are not tests for HH
*Blood tests: serum iron, TIBC (Total iron binding capacity), and serum
ferritin (blood taken in doctor’s office from your arm not your finger.)
* Percent of saturation is calculated by dividing the numerical result of the serum iron by
the numerical result of the TIBC. A percent of saturation greater than 40% (>40%) and,
or a serum ferritin greater than 150 ng ml (>150 ng ml) is suspicious for HH and should
be further investigated by a qualified physician.
*DNA (genetic) testing by a lab which tests for both HFE mutations (cys282 & his63)
can help confirm the diagnosis or determine genetic risk for HH in the future.
*Always get copies of your own lab results and medical records and read them yourself
and keep a home medical file.
*Always consider getting a second opinion, especially if you have an
advanced case of HH with serious medical complications.
*Avoid raw seafood (cooked is fine), vitamin C supplements (juice, etc. is
fine), and of course avoid iron pills and iron cookware.
*Do not eat a diet void of iron, it is unpleasant, unhealthy, and you will
end up weak! (one patient reported eating nothing but water and cottage
cheese the first two weeks after her diagnosis she was so fearful of eating
anything with iron in it). Remember our diet motto: “All take heed, you may eat the food
that you need, but be willing to bleed!”
*Aggressive bloodletting (therapeutic phlebotomy) 1 unit removed usually once a week
until serum ferritin is less than 20ng ml (<20) and then maintain it there performing 3 to
4 treatments per year for the lifetime of the patient.
*Liver biopsy may be necessary to determine extent of liver disease if liver function tests
(LFT’s) are significantly elevated and there are signs of liver distress. Discuss the need
for this procedure carefully with your physician. Those with early, asymptomatic HH
with normal LFT’s, probably will be able to forego this invasive procedure. The earlier
the diagnosis, the less chance you’ll need a liver biopsy, so early screening is important.
If you do have a liver biopsy, request that it be done with “guidance” such as ultrasound
or CT.
*Warn all family members to be tested and keep a computer file of family members’
results. Don’t forget the elderly and the kids when screening family members.
*Take an active part in your health care!
AHS Board Members & Medical Advisory Board
Sandra Thomas, President/Founder
David Geise Snyder, Vice-president
Cindy Munn, RN, Secretary
Sandra Spangler, Treasurer
Directors:
Alison Reilly
Christopher Reilly
Joseph Burghard Thomas
Medical Directors:
Geoffrey D. Block, MD
UNOS Transplant Physician
Co-Director, Protein Research Center
Medical Director, Artificial Liver Program
Director, Hemochromatosis Center
University of Pittsburgh Medical Center, PA
Tom Clayton, MD
Chairman, Department of Radiology
Nacogdoches Medical Center, TX
Victor Herbert, MD JD
Professor of Medicine
Mt. Sinai School of Medicine, NY, NY
Jerome Sullivan, MD Ph.D.
Clinical Assistant Professor
University of Florida
Gainesville, FL
Pediatric Medical Directors:
Michael Garrick, Ph.D.
Research Associate Professor of Pediatrics
Buffalo, NY
Yigal Kaikov, MD
University of British Columbia
British Columbia Children’s Hospital
Vancouver, Canada
Jeffrey Murray, MD
Assistant Medical Director
Cook Children’s Medical Center
Fort Worth, TX
Kenneth A. Pass, Ph.D.
Chief, Laboratory of Newborn Screening
NY State Dept. of Health, Albany, NY
Committees:
Legislative Affairs Committee
Chairman
Sandra Spangler
Betsy Hansgen
Nursing Advisory Committee
Co-Chairmen
Cindy Munn RN
Shiryl Foster RN BSN
AHS E-Zine—The BloodLetter
Sandra Spangler, Editor
AHS Internet Web Site
Sandra Thomas, Web Master
David Geise Snyder, Page design
AHS Contact Information
American Hemochromatosis Society
777 East Atlantic Avenue, PMB Z-363
Delray Beach, Florida 33483-5352
Tel: 561-266-9037
Email: [email protected]
Web site: www.americanhs.org
AHS Information Hotline: 1-888-655-IRON (4766)