From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
The
Heterozygous
By
N.
Alloisio,
Form
of4.1(-)
[the 4.1(-)
L. Morl#{233}, E. Dorl#{233}ac, 0.
z.
Using
clinical.
teria,
we
morphological.
studied
hereditary
ten
individuals
displayed
was
which
.
dures.
The
form
following
transmission;
gility.
Its
HE
was
and.
when
frequency.
as
a
first
H
EREDITARY
at
signs;
of
least
in
HE.
while
others
produce
HE was determined
proven
has
yet it
clini-
So far, it
classifica-
of skeletal
4. 1 was
in these
variable
intensity.
de Recherches
began
found
M#{232}decine
Grange-Blanche.
Biochimie
Clinique
de
Lyon.
and
Centre
Pierre
the
et Marie
proposed
was
Curie.
Hbpital
l5.6
Centre
Hospitalier,
ratoire
Hbpital
Lenval,
Supported
Institut
No.
in part
National
CRL
81
by the
to
CRL
Franco-Alg#{233}rienne:
among
Alg#{234}rie;
range,
1 to 57
France;
elliptocytic.
Strategies
Laboratoire
and
the
Labo-
Bernard-Lyon
Diagnostiques
1. the
M#{232}dicale (grants
and
the
RCP
et Th#{233}rapeutiques
Address
sur
Oct
reprint
le Globule
Lyon
Cedex
1 1, 1983;
requests
Rouge.
08,
accepted
to Dr N. Alloisio,
26.
1984.
Groupe
de Recherches
Facult#{234} de M#{234}decine Grange-Blanche.
France.
© 1985 by Grune
& Stratton,
0006-.4971/85/6501-0007$03.00/0.
46
June
of
not be
with
a partially
variant
en
69373
In the
protein
course
of an
elliptocytic
AND
are
whom
exception,
families,
sometimes
with
a
band
4.1
present;
from
France,
Algeria,
(age
four
range,
are
age,
family
(except
in
examined),
both
presented
(Fig
the
Results
section.
BA was
by
F#{233}o
et al4 and
paternal
sides,
respectively,
1.1
proposita
of this
other
they
PA,
carrying
4.1,156
families
BA
the
1 ). The
4.1
(-
1.2
are
second
gene
and
was
reevaluated.
Consanguinity
HA.
Only
paternity
and
limited
the
and
at
one
least
conditions
will
features
On
to the
the
first
are
family
maternal
cousins
cousins
and
of
to each
a shortened
was
tests
I 3 are
in which
to be related
are
)
whom
clinical
et al.5
32
(age
SC
Morphological
and
1).
age,
females
among
parents
Tchernia
family;
20
family
discovered
described
(Table
median
and
for
families
Morocco
22 years),
are
in Fig 2. Family
independent
and
elliptocytic,
median
be
ten
2 to 53 years;
years;
child
protein
in three
of HE
METHODS
presented
In every
not
presented
HE
from
Southeast
four families
in
transmitted
form
)
12 males
could
shown
of
a child with a
and genetic
entity.
Southeast
include
could
the
other.
variant
of
present
in
be carried
out.
Controls
Inc.
could
Controls
from
Family
H#{234}matologie.
Submitted
father
be
12 90 /3)
these
signs
a partial
reduction
of band 4. 1 , which
to as the 4. 1 ( trait, can be identified
persons
years),
et de Ia Recherche
PRC
and
Thirty-two
the
France;
France.
82 JO 12. and
HE
a shortened
MATERIALS
These
France;
of
Inc.
unavailable.
as a homogeneous
et
Alg#{234}rie; the
Annecy,
Nice.
Therefore.
with
associated
with
will
be referred
d’H#{232}matologie
Grenoble,
Universit#{233} Claude
de Ia Sante
/0 06,
Oran,
three
by clinical
of inheritance
remained
uncertain
Therefore,
the heterozygous
form
originating
Alger.
b
terminology.1
was
de
Mustapha.
4.1 a/4.1
age-dependent
In
of HE
was
associated,
without
decrease
of band 4.1. In the other
was normal,
and clinical
signs were
Facult#{233}de
Lyon.
cell
Mueller
and Morrison’7
observed
lack of band
4. 1 ; however,
clinical
D#{232}partement
des Sablons.
CHU.
d’H#{234}matologie,
Central,
Herriot,
Hbpital
d’H#{234}matologie.
the
the
of inheritance
& Stratton,
associated
4. 1
total
the mode
families.
in some
Rouge.
Central
Edouard
d’H#{234}matologie.
Service
France;
Laboratoire
Cytog#{234}n#{234}tique. Hbpital
the Service
sur le Globule
red
accompanied
and the mode
by Grune
1985
S
Patients
the Groupe
was
determined.
HE cases.4’5”5
Total
absence
of normal
band
4.1 was
recognized
in genuine
homozygotes4’5
and in a compound
heterozygote
in whom
the absence
of protein
4.1
From
the
components.
two
elliptocytosis
elliptocytic
Again.
information
wards,
genetic
variations
be recognized.6’#{176}’4
of protein
reflecting
families.
studied.
bands.
screening
that
involved
ten families
France
and North
Africa,
we found
which
a clinically
silent,
dominantly
question
was renewed
when
of the red cell membrane
and when,
soon after-
reduction
families
4.1
or less severe
tion of HE. However,
the
the molecular
architecture
skeleton
was determined,’3’79
A partial
six
normal
of the elliptoalthough
a
Homozygous
proteins
Bost,
North
(HE)
only in two families.
to establish
a clear-cut
difficult
other
decreased,
previously
fraone
bases;
forms
are
a more
M.
reduced band 4.1 defines a homogeneous
variety of HE that
can be isolated from other forms of HE. We suggest that it
be termed
the 4.1 ( - ) trait, so as to correspond
with a
osmotic
ELLIPTOCYTOSIS
defined
on morphological
condition.’3
Some
In the
presented
was
P. Colonna,
unequivocally
numer-
and
Africans.
Guetarni,
Delaunay
red
is about
whites
J.
Elliptocytosis
the
dominant
normal
forms
hemolysis.
The percentage
and the shape
cytes
may vary.
HE is usually
dominant,
recessive
variety
exists
in Melanesians.
has
with
elliptocytes;
all
estimate.
long been
is a heterogeneous
silent,
of clinical
investigated.
among
in young
D.
and
changes
reduced.
associated
Bachir,
ratio
of band
significantly
D.
Roussel,
subjects
proce-
enriched
absence
well-elongated
with
elliptocytic
reduction
invariably
and
cri-
families
electrophoretic
also
D.
biochemical
families,
in suspensions
of
third
cally
was
characteristics:
smooth
two
Gentilhomme,
L. Roda,
African
significant
using
ratio
and
North
In four
a highly
recorded
observed
This
ous,
and
(HE).
4.la/4.lb
as is usually
cells.
genetic.
white
elliptocytosis
4.1
Zouaoui,
Hereditary
Trait]
consisted
obtained,
and
Helsinki
Doctrine.
all
of I 4 healthy
procedures
volunteers;
were
Blood. Vol 65,
informed
performed
No
1 (January),
consent
according
1985:
was
to
pp 46-5
the
1
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
HEREDITARY
4.1(-)
EWPTOCYTOSIS
47
Table 1 . The Elliptocytic
Families
Present Residence
Families
Investigated
,th.4.1
Geoaphical
Known
(-)trait
Origin
4.1(-)trait
PA
Paris
BA
Algiers
AP
SE France
GA
4. 1(
area
France
area
Algeria
SE France
I
+
with
AZ
SE France
SC
SE France
TI
Great
4. 1 ( + )
with
BA
of transmission
Morocco
France
Kabily,
Algeria
mode
uncertain
.2*
1.1
France
mode
dominant
and Turkey
France
and
Italy
and
Italy
Algeria
of transmission
CH
SE France
France
AU
SE France
France
HA
Western
Algeria
Algeria
Methods
Red
cell
counter
indices
were
(Coulter
tocyte
counts,
serum
group
typing
were
cell
ghosts
Total
iron,
bilirubin,
to Fairbanks
acrylamide
monomer
ghosts
geneous
(7%).
were
with
a Vernon
(Paris)
in the
of the
to band
3 upon
densitometer
was:
amounts
band
The
to
4.1/band
and
and
I
Red
et
latter
the
case,
both
types
called,
4.9 were
gels
more
also
11.1*
4. 1 was
ofgels
Sebia
AZ
the
homo-
separating
of band
.2*
.1
al.’8
sodium
gel was
amount
scanning
4.lb,
Dodge
with
separating
(3 x 100),
4.la,
blood
(SDS-PAGE),
or in a Cellosystem
of bands
rhesus
analyzed
stacking
ellip-
methods.
Laemmli.#{176} In the
respectively.
respect
expression
The
heights
I I .5 cm,
expressed
were
cell
and
and
electrophoresis
concentration
The
I .0 and
4.1 /3.
et al’9 and
ABO
to standard
according
gel
electronic
Reticulocyte
and
essentially
erythrocyte
a Coulter
Fla).
according
sulfate-polyacrylamide
according
The
total
prepared
of
with
Hialeah,
performed
were
proteins
dodecyl
determined
Electronics,
in
(Paris).
simply,
expressed
A
II
n.j.
I .1
PA
iifl
HA
2
‘-1-’CS
iJ
0
I
‘ 2
1.1.22
11.2*
,1
1E2
Sc
8
Fig 2.
The morphological
data. Categories
A. B. and C are as in
One family from each category
is shown. and in each family,
one elliptocytic
child is presented.
a . Elliptocytic
persons:
propositus.
Fig
‘in
AP
20
n.1
I1E22
.
2
HA
TI
1
‘..
with
respect
to band
3 upon
scanning
Laemmli
gels
in a Cellosystem
Sebia.
RESULTS
The genetic
trees. n.e.. Not examined;
n.i..
rated in the statistics
(see Table 2, footnote
1);
the
(A) The families
with the 4.1 ( - ) trait.
(B) The other
with dominant
transmission.
(C) The other forms of
Fig 1
uncertain
gene
.
mode
in
shortened
the
of
A
protein
transmission.
column;
4.1
Solid
dotted
in family
areas
PA.
not incorpopropositus.
forms of HE
HE with an
areas
indicate
the 4.1 ( -)
represent
the
gene for
The
Determination
Following
ofthe
electrophoresis
Band
4. 1 Percentage
according
al,’9 the percentages
of band 4.1 fell
distinguishable
classes:
(1) the major
the
controls
(percentage,
1 7.7%
±
to Fairbanks
et
into two clearly
class,
including
I .2%;
n
=
I 4),
a
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
ALLOISIO
48
ET
AL
4.1 /3
FAIRBANKS
LAEMMLI
20
20.
a
i::
B
I
A
i
S
.0
#{149}
#{176}#{149}
15
“F
‘F,
10
4.la/4.lb
4.lb/3
4.la/3
2
15
15
na
H
#{149}
U
#{149}
1221
,
3414.2
II
Bi
34142
495
I
1
10
I
__
56
:
00
S
Fig
3.
The
amounts
of
total
protein
4.1
and
of
polypeptides
4.la
and 4.lb.
The amounts
are expressed
as 4.1/3
(x 100).
4.la/3
(x 100). and 4.lb/3
(x 100). respectively.
a. The controls
(m ± 2 tr); V. the 4.1 ( - ) trait
carrier;
,
other forms
of HE with
dominant
transmission;
other forms of HE with uncertain
mode
of transmission;
V. 0. and D, the nonelliptocytic
persons
of the
corresponding
families.
(A) 4.1 /3. as determined
by the procedure
of Fairbanks
et al (left) and the procedure
of Laemmli
(right).
(B)
4.la/4.lb,
4.la/3,
and
4.lb/3,
as determined
according
to
Laemmli.
jLIJ’\LJLil#{174}
feb
b
#{149},
Fig
4.
SDS-PAGE.
cedure
of Fairbanks
(b) the 4.1 ( - ) trait
number
bers
of elliptocytic
of families
with
persons,
and
elliptocytic
all normal
persons,
and
normal
(2)
significant
(P < .05),
because
the lower limit (15.3%)
ofthe
m
interval
not all, of the
gels performed
(Table
2, and
Figs
3 and
the
cal values
were
normal
percentage
obtained.
In
was 1 7.9%
±
±
4). Most,
above
persons
could
be examined
according
to Laemmli.
Nearly
the major
1 .3% (n
=
all
2
but
using
identi-
class,
the
7). In the
4.l(-)
class,
the percentage
was 14.6%
±
1.0% (n =
Again,
the reduction
of the band
4. 1 percentage
was statistically
significant
(P < .001).
However,
two
values
of the 4. 1 - ) class were included
in the lower
part of the m ± 2 a normal
interval,
possibly
because
there were less controls
in this series of determinations.
7).
(
It is noteworthy
us to rule
out
that the
the existence
Laemmli
procedure
of ectopic
band
patterns
(AP
were
and
obtained
Laemmli
with
(right).
the
pro-
(a) A control;
I.2).
mem-
4. 1 ( - ) class,
with reduced
values
(percentage,
12.5%
±
0.7%; n = 7) (Fig 3A). The decrease
of the band 4.1
percentage
was statistically
significant
(P < .001) and
also individually
values
fell below
The
et aI (left)
allowed
4. 1 , which
would
comigrate
with
band
al procedure.
Nevertheless,
noticed
in the region of band
4.2
using
the
a band
4.5 when
Fairbanks
et
was sometimes
the ghosts
could
not be entirely
freed of hemoglobin.
The other proteins
appeared
to be quantitatively
normal
in all subjects.
The4.l(-)
Trait
( )
The 4. 1 class exclusively
contained
seven elliptocytic persons
belonging
to families
PA, BA, AP, and
GR. The reduction
of band 4. 1 correlates
with individuals completely
devoid
of band
4. 1 in family
PA’5’6
and in relatives
of family
BA4’5 (see footnotes,
Table
2). It may be noted that the percentage
of band 4. 1 in
the correct
position
in PA 1.2 (the heterozygous
carrier
of the shortened
variant
of protein
rated
in the statistics)
is 10.8% using
4. 1 , not incorpothe procedure
of
Fairbanks
et al. This value corresponds
set of protein
4. 1 . It is clear,
therefore,
metric
determination
can reliably
detect
to one haploid
that densitoa reduction
of
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
4. 1(-)
HEREDITARY
Table
ELLIPTOCYTOSIS
2.
The
Amount
49
of Band
4.1 With
4. 1(
12.7
13.5
12.2
13.0
12.0
15.4
1.0
12.4
14.9
0.8
11.1
11.7
15.4
1.0
.2
12.2
15.0
1.2
11.1
14.0
15.1
14.6±
12.5±0.7(n-.7)
normal
AZ
band
mode
Dominant
4.1
of transmission
19.1
18.6
1.3
16.9
18.4
1.6
0.8
1.2
15.7
19.2
Il.1
18.4
19.9
1.1
15.3
19.0
11.1
17.5
Uncertain
mode
of transmission
AU
ll.1
16.8
19.4
CH
11.2
16.3
19.9
HA
11.2
16.6
Controls
17.0±
17.7
of
band
persons
elliptocytic
4. 1 was
of the
as band
related
4. 1 which
50%, but which
sumably
because
obtained
corresponding
son of this man
4. 1 migrating
persons
±
families
has no band
14)
the
17.9
procedure
are presented
of
Fairbanks
at
4. 1 in the normal
position
because
to this family
should
completely
be,
is, in practice,
of overlapping
lack
4. 1 , being
band
theoretically,
equal
less pronounced,
band 3.
to
pre-
frequency
first
and
4. 1 is also
invariably
accompanied
by
within
the normal
range (Hb, 133.4 ± 18.1 g/L’
[n =
7; extreme
values,
104 to 162J;
total bilirubin,
1 1.8 ±
6.9 zmol
‘
[n = 4; extreme
values,
8 to 221). The
reticulocytes
tended
to indicate
a mild hemolytic
process: 165.4
±
73.5 GL’
(n = 5; extreme
values,
210). Osmotic
fragility,
which
was investigated
1.2 and 11.1 and GR 1.2 and II.!,
was normal
6The
lower
value
74 fi) in this
was
groups
associated
particular
that
with
case.
we
microcytosis
examined,
(mean
92 to
in AP
(not
the
cellular
of the
estimate,
as will
the following
characteristics:
no clinical
sign (no splenomegaly);
numerous
(often
100%)
smooth
and wellelongated
elliptocytes;
and an unequivocally
dominant
mode
of inheritance.
Hemoglobin
and bilirubin
fell
volume,
1.6 ± 0.1
Laemmli’s
procedure.
The
(n
5)
percentages
found
in
inherited
from
his mother
a shortened
variant
4. 1( - ) homozygotes.4’5
decreased
ethnic
7)
=
with
he contemporaneously
The
4.1
the
1.3 (n
±
al and
4.2.16
4.lb
remained
within
normal
limits
(Fig
3B).
The
amount
of band 4.9 (4.9/3
[ x 100]) was normal: 4.5 ±
1 .0 (n = 7) v 4.4 ± 0.7 in seven controls.
It is remarkable
that
HE
associated
with
a
In
±0.4(n=5)
in Fig 3.
was
band
0.6
19.2±0.5(n.-8)
1.2 (n
with
1.1
18.8
1.2(n-.9)
In persons
with low protein
4.1, the 4.la/4.lb
ratio
was significantly
reduced
(Table
2). However,
this was
due mainly
to a significant
decrease
of band 4. 1a; band
shown).
1.O±0.2(n-6)
11.1
TI
percentage
1.3
1.0(n-.7)
11.2
SC
protein
lb
0.8
1.1
Totals
tSome
4. la/4.
to La.mmli
I.2t
nonelliptocytic
Persons
4.1/3
According
et al
I1
HE with
b Rat ios in Elliptocytic
and the 4.la/4.1
BA
GA
‘The
x 100)
PA
ll.2
of protein
3 (4.1 /3
) trait
-
AP
The
to Band
4.1/3
to Fairbanks
Accorng
The
Respect
this
be discussed.
striking
the 4. 1 (
-
HE
variety
is about
is slightly
homogeneity
to allow
the
0.4
as a
overestimated,
of this
picture
individualization
of
) trait.
With
All the other
band
families
4.1
TI display
trait:
no
(often
cally
100%)
dominant
ratio
was
smooth
mode
0.50
and
The
(n
a Normal
have
due
(no
Amount
of Protein
elliptocytic
2, Fig
the same
signs
reduced,
of band
4.la
and Fig 3).
(Table
nearly
clinical
±
HE
value
The
enough
Varieties
normal
4.54
present
but
3).
subjects
Families
features
as the
splenomegaly),
elliptocytes;
of transmission.
concomitantly
and
with
AZ,
SC,
4. 1 ( -)
numerous
an
The
to the
unequivo4.la/4.lb
decrease
the increase
of band 4.lb
(Table
2
amount
of band
4.9 was normal:
=
5). Families
AU,
CH,
and HA,
however,
are at variance,
because
the mode of inheritance
is uncertain
and clinical
signs of hemolysis
may
be present.
Morphologically,
elliptocytosis
appears
to
be clearly
recessive,
but in the absence
of extensive
paternity
tests and because
of the possibility
of hemolytic HE with spherocytosis,’
the assessment
of genume recessivity
must
await
further
investigation.
The
clinical
signs
are
( 1 ) asthenia
in CH
11.2,
(2) intermit-
From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
50
ALLOISIO
tentjaundice
(total
splenomegaly
lytic
picture,
having
serum
in AU
with
bilirubin,
11.1,
and
48
(3)
splenomegaly
appeared
soon
and
after
who
is
birth
from
smol
L’)
a dramatic
and
transfusion
in HA
Algeria,
tions.
hemoneeds
11.2.
In the
latter
patient,
major
of the
was ruled out on the basis that the mother
is free
fl-thalassemia
trait (RBC,
3.46 Tl’;
MCV, 86
fi; HbA2,
3.46%).
Again,
reduced,
with a concomitant
increase
of
amount
band
4.lb
of band
4.9 was
fl-thalassemia
(Table
2 and
4.83
±
Fig
3B).
0.35
(n
=
that
the
of
procedure
of
Laemmli.
between
et al.
Therefore,
the
overall
decrease
the 4.lb
band
of protein
fell in the
increased
identified
as actin-bundling
normal
in the 4. l( - ) trait.
compared
procedure
to
of
4. 1b
In the 4.l(-)
than
in other
in other
investigated
Fairbanks
Fair-
was
respectively.21’23
more reduced
The
study
shows
that
one can reliably
detect
a
reduction
of band 4. 1 in some cases of HE. The
of band 4. 1 appeared
to be more pronounced
using
lb ratio
3).
DISCUSSION
This
partial
decrease
4.la/4.
reduced
in the
4.l(
-)
trait,
as in most hemolytic
conditions.2’
Low values
of
the 4. la/4.
1b ratio would
be an attribute
of young
red
cells,
and there
seems
to be a precursor-to-product
relationship
the 4.la/4.lb
ratio
was
decrease
of band 4. la and
normal:
The
ET AL
decreased
trait (N.
4.la
trait,
forms
of HE.
same
while
Band
4.9,
reason,
it was
recently
protein,24
appeared
to be
Glycoconnectin,’7
which we
in homozygous
4. 1(
-
(I 6%) in the parent
Alloisio
et al, submitted
reported
polypeptides,
the 4.la band was
of HE, due to the
4. 1 . For the
normal
range,
varieties
HE,
)
was
slightly
4. 1 ( -)
carrying
the
for publication).
(
Another
important
tative
defect
seems
been
and
point is that the 4. 1 - ) quantito be specific
to HE. It has never
in other
hereditary
abnormalities
of red
banks et al is slightly
more sensitive
for the detection
of
a decrease
of band 4. 1 . In both techniques,
the reduction is underestimated
because
of an overlapping
of
band
3. Remarkably,
the HE-associated
reduction
of
band 4. 1 - ) at the heterozygous
state
is consistently
accompanied
by the following
features:
absence
of
cell shape
and was recently
described
It is interesting
that the spontaneous
cell fragmentation
(which
culminates
clinical
signs,
fragility
smooth
(when
investigated),
and
well-elongated
complex
are associated
with smooth
elliptocytes
[except for homozygous
4. l( - ) HE]. The normal
osmotic
(
with
other
dominant
transmission,
normal
and
elliptocytes,
the
osmotic
invariably
in contrast
the spontaneous
budding
that
occurs
forms of HE.’’#{176}’2 It should
be pointed
the homozygous
form,
with total
4. 1
was associated
with severe
splenectomy
and
clinically
silent
with
red
HE
displayed
cell
budding.
fragility
in some
out that
absence
hemolysis
In turn,
not all
band
4.1,
(
although
the 4. 1 - ) trait must be a frequent
variety
of
mild
HE in the ethnic
groups
investigated.
In four
other elliptocytic
persons
from the same ethnic
groups,
who were not incorporated
familial
background
could
in the study
because
not be investigated,
their
we
found
band
three
one
case
of reduced
4. 1 (1 1 .3) and
cases with normal
band 4. 1 (19.5,
1 7.3, and
the Fairbanks
et al procedure.
The 4. 1 ( account
for
for a much
approximately
more
important
one
)
observed
by Whitfield
4. 1 b overlap
so much,
measurements
is limited;
electrophoretic
conditions,
this
et al.22 Because
the accuracy
fact,
may
along
account
with
to
abnormalities
of
not
lead
form
the 4. 1 ( -
us to consider
of HE.
From
the
the
In con4.1
data
)
trait
gathered
in this
linkage
work, it was impossible
to establish
or rule out a
between
the 4. 1 ( - ) trait and the rhesus
locus.
The other families
with HE carried
different
elliptocytogenic
genes,
which
never
reduced
the amount
of
band
4.1. The 4.la/4.lb
ratio
was decreased,
again
reflecting
the presence
of younger
red cells. However,
because
the entire
stock
of protein
4. 1 was present,
band 4. 1a was less reduced
and band
4. 1b was more
increased
than in the 4.l(-)
trait.
Families
AZ, SC,
and
TI
also
In this
and
HE
among
whites
and North
Africans.
The 4. 1 a/4. 1 b ratio that we found
in controls
was
lower than that found by Sauberman
et al,2’ but higher
than that
4, 1 a and
would
displayed
mild
conformed
to the classically
tance of this condition.
19.2) using
trait may
third of total HE
proportion
of mild
pertains
oligomerization
site.6 ‘ #{176}‘2.2628
of the spectrin-actin-protein
as a spherocytic
of protein
prior
to
a reduced
pyropoikilocytosis)
spectrin-spectrin
trast,
abnormalities
in canine
HE.25
tendency
to red
in hereditary
work,
we have
varieties
of
dominant
HE,
mode
which
of inheri-
the 4. 1 ( -
characterized
)
trait
that constitutes
an apparently
frequent
variety
of mild
elliptocytosis,
at least in the ethnic
groups
that have
been
investigated.
The definition
is based
on a biochemical
sign that
seems
highly
specific
and which
should
allow accurate
epidemiologic
studies.
bands
of the
ACKNOWLEDGMENT
different
for the
We
varia-
thank
Mrs
M. Anzilutti
for preparing
the
manuscript.
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From www.bloodjournal.org by guest on June 17, 2017. For personal use only.
1985 65: 46-51
The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait]
N Alloisio, L Morle, E Dorleac, O Gentilhomme, D Bachir, D Guetarni, P Colonna, M Bost, Z Zouaoui and
L Roda
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