( 3 ) 7 - 8 6 9 2 - 2 8 , ) *% 1 - 0= #
!'UIDEFOR
5NDERSTANDING'ENETICS
AND(EALTH
0 -: ) *36 0 -* )
( 9 /) - 2 78-89 8)*3 6+ )23 1 ) 7'-)2')7 4 30 -'=
#ONTENTS
;L]MWKIRIXMGWMQTSVXERXXSQ]JEQMP]ERHQI#
;LEXQEOIWQIYRMUYI#
8IPPQIQSVIEFSYXQ]KIRIW
;L]HSJEQMP]QIQFIVWLEZIXLMRKWMRGSQQSR#
;L]HSWSQIHMWIEWIWVYRMRJEQMPMIW#
,S[GERJEQMP]LIEPXLLMWXSV]LIPTQIWXE]LIEPXL]#
;L]WLSYPH-FVMRKQ]JEQMP]LIEPXLLMWXSV]
XSQ]LIEPXLGEVITVSZMHIV#
(MWIEWIWXLEXVYRMRXLIJEQMP]
,IEVXHMWIEWI
Coronary artery disease
High blood pressure
1IRXEP(MWSVHIVW
(MEFIXIW
Type I
Type 2
'ERGIV
Breast
Colon and rectal
Prostate
7MGOPIGIPPHMWIEWI
6IWSYVGIW
#
7HYISGENETICSIMPORTANT
TOMYFAMILYANDME
+IRIXMGWLIPTWXSI\TPEMR
ˆ;LEXQEOIW]SYYRMUYI
ˆ;L]JEQMP]QIQFIVWLEZIXVEMXWMRGSQQSR
ˆ;L]WSQIHMWIEWIWPMOIHMEFIXIWSVGERGIV
VYRMRJEQMPMIW
ˆ,S[PIEVRMRK]SYVJEQMP]LIEPXLLMWXSV]GERLIPT]SY
WXE]LIEPXL]
ˆ;L]]SYWLSYPHFVMRK]SYVJEQMP]LIEPXLLMWXSV]XS
]SYVLIEPXLGEVITVSZMHIV
8EOMRKXMQIXSPIEVREFSYXLIEPXLERH
HMWIEWIWXLEXVYRMR]SYVJEQMP]MW[SVXLMX
-X[MPPLIPT]SYYRHIVWXERH]SYVS[RLIEPXL
ERHQEOILIEPXL]GLSMGIW
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, 7HATMAKES
MEUNIQUE
)ZIV]TIVWSRMWYRMUYIMRQER][E]W4EVXSJ[LEXQEOIW
]SYYRMUYIMWMR]SYVKIRIW+IRIWEVIXLI
MRWXVYGXMSRWMRWMHIIEGLSJ]SYVGIPPW8LIWI
MRWXVYGXMSRWMRµYIRGILS[]SYPSSOERHLS[]SYVFSH][SVOW
7MRGIIZIV]SRILEWWPMKLXP]HMJJIVIRXKIRIWIZIV]SRILEWE
HMJJIVIRXWIXSJMRWXVYGXMSRW+IRIWEVISRIVIEWSR
[L]]SYEVIYRMUYI
,ERH
(3)7-8692-28,)*%1-0=#
'IPP
4ELLMEMOREABOUT
MYGENES
ˆ%TIVWSRLEWX[SGSTMIWSJIEGLKIRISRIJVSQXLIQSXLIV
ERHSRIJVSQXLIJEXLIV
ˆ+IRIWGEVV]MRWXVYGXMSRWXLEXXIPP]SYVGIPPWLS[XS
[SVOERHKVS[
ˆ'IPPWEVIXLIFYMPHMRKFPSGOWSJXLIFSH])ZIV]TEVXSJ]SYV
FSH]MWQEHIYTSJFMPPMSRWSJGIPPW[SVOMRKXSKIXLIV
ˆ+IRIWEVIEVVERKIHMRWXVYGXYVIWGEPPIHGLVSQSWSQIW
,YQERWLEZITEMVWSJGLVSQSWSQIW'STMIWSJXLI
GLVSQSWSQIWEVIJSYRHMRIEGLGIPP
ˆ'LVSQSWSQIWEVIQEHIYTSJ(2%(2%MWXLIWTIGMEPGSHI
MR[LMGLXLIMRWXVYGXMSRWMR]SYVKIRIWEVI[VMXXIR
'LVSQSWSQIW
(2%
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, 7HYDOFAMILYMEMBERS
HAVETHINGSINCOMMON
'LMPHVIRMRLIVMXTEMVWSJKIRIWJVSQXLIMVTEVIRXW%GLMPH
KIXWSRIWIXSJKIRIWJVSQXLIJEXLIVERHSRIWIXJVSQ
XLIQSXLIV8LIWIKIRIWGERQEXGLYTMRQER]
[E]WXSQEOIHMJJIVIRXGSQFMREXMSRW8LMWMW[L]QER]
JEQMP]QIQFIVWPSSOEPSXEPMOIERHSXLIVWHSR«XPSSO
PMOIIEGLSXLIVEXEPP+IRIWGERHIXIVQMRIWMQMPEVMXMIWMR
ETTIEVERGIFYXXLI]QE]EPWSPIEHXSEVMWOMRXLIJEQMP]JSV
HIZIPSTMRKGIVXEMRLIEPXLGSRHMXMSRW
*EQMPMIWEPWSWLEVILEFMXWHMIXERH
IRZMVSRQIRX8LIWII\TIVMIRGIWQMKLXMRµYIRGILS[
LIEPXL][IEVIPEXIVSRMRPMJI
(3)7-8692-28,)*%1-0=#
=SYWLEVIEPSX[MXL]SYV
JEQMP]§MRGPYHMRK[LEXGER
QEOI]SYWMGO
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, 7HYDOSOMEDISEASESRUN
INFAMILIES
7SQIHMWIEWIWEVIGEYWIH[LIRXLIVIMWEGLERKIMRXLI
MRWXVYGXMSRWMREKIRI8LMWMWGEPPIHEQYXEXMSR)ZIV]
TIVWSRLEWQER]QYXEXMSRW7SQIXMQIWXLIWI
GLERKIWLEZIRSIJJIGXSVEVIIZIRWPMKLXP]LIPTJYP&YX
WSQIXMQIWXLI]GERGEYWIHMWIEWI
1SWXGSQQSRHMWIEWIWEVI
GEYWIHF]EGSQFMREXMSRSJ
QYXEXMSRWPMJIWX]PIGLSMGIW
ERH]SYVIRZMVSRQIRX)ZIR
TISTPI[MXLWMQMPEV
KIRIWQE]SVQE]RSX
HIZIPSTERMPPRIWWMJXLI]
QEOIHMJJIVIRXGLSMGIWSVPMZIMR
'SQQSR(MWIEWI
(MEFIXIW
'LERKIWMR]SYVKIRIW
TEWWIHSRF]]SYVTEVIRXW
QE]QEOI]SYQSVIPMOIP]
XSHIZIPSTX]TIHMEFIXIW
-J]SYEVIEGXMZIERHIEXE
LIEPXL]HMIX]SYQE]FI
EFPIXSPS[IV]SYVVMWO
EHMJJIVIRXIRZMVSRQIRX
:MWMXTEKIXSPIEVREFSYXWSQI
(3)7-8692-28,)*%1-0=#
8LSYWERHWSJHMWIEWIWEVIGEYWIH
F]EWTIGM´GGLERKIMRXLI(2%
SJEWMRKPIKIRI1ER]SJ
XLIWIHMWIEWIWEVIVEVI
8LIWIGSRHMXMSRWYWYEPP]HIZIPST
[LIRERMRHMZMHYEPMWFSVR[MXLE
7MRKPI+IRI(MWSVHIV
7MGOPI'IPP%RIQME
7MGOPIGIPPERIQMEMW
GEYWIHF]EQYXEXMSR
MREWMRKPIKIRITEWWIH
JVSQIEGLTEVIRX
QYXEXIHKIRI
)ZIRMJEVEVIHMWIEWIVYRWMR]SYVJEQMP]HSR«XJSVKIX
XSPIEVREFSYXQSVIGSQQSRGSRHMXMSRWXLEXEJJIGX]SYV
JEQMP]«WLIEPXL
HMWIEWIWXLEXVYRMRJEQMPMIW
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, (OWCANKNOWINGMY
FAMILYHEALTHHISTORYHELP
MESTAYHEALTHY
*EQMP]LIEPXLLMWXSV]KMZIW]SYERMHIESJ[LMGLHMWIEWIW
VYRMR]SYVJEQMP],IEPXLTVSFPIQWXLEXHIZIPSTEXE
]SYRKIVEKIXLERYWYEPGERFIEGPYIXLEX]SYVJEQMP]LEW
LMKLIVVMWO8LSYKL]SYGER«XGLERKI]SYVKIRIW]SYGER
GLERKI]SYVFILEZMSV
/RS[MRK]SYVJEQMP]LIEPXLLMWXSV][MPPLIPT]SY
ˆ-HIRXMJ]VMWOWHYIXSWLEVIHKIRIW
ˆ9RHIVWXERHFIXXIV[LEXPMJIWX]PIERHIRZMVSRQIRXEPJEGXSVW
]SYWLEVI[MXL]SYVJEQMP]
ˆ9RHIVWXERHLS[LIEPXL]PMJIWX]PIGLSMGIWGERVIHYGI]SYV
VMWOSJHIZIPSTMRKEHMWIEWI
ˆ8EPOXS]SYVJEQMP]EFSYX]SYVLIEPXL
ˆ7YQQEVM^I]SYVLIEPXLMRJSVQEXMSRXSKMZIXS]SYV
LIEPXLGEVITVSZMHIV
6IQIQFIV
7LEVI]SYVJEQMP]LIEPXLLMWXSV][MXL]SYVLIEPXLGEVITVSZMHIV
%WOMJWGVIIRMRKMWEZEMPEFPIJSVEHMWIEWIMR]SYVJEQMP]
(3)7-8692-28,)*%1-0=#
7HYSHOULD)TAKEMY
FAMILYHEALTHHISTORYTO
MYHEALTHCAREPROVIDER
=SYVLIEPXLGEVITVSZMHIVHSGXSVRYVWISVTL]WMGMER«W
EWWMWXERXQE]YWI]SYVJEQMP]LIEPXLLMWXSV]ERHGYVVIRX
LIEPXLXS´KYVISYX]SYVVMWOJSVHIZIPSTMRKEHMWIEWI=SYV
TVSZMHIVGERXLIRLIPTHIGMHI[LMGLWGVIIRMRKW]SYKIXERH
[LMGLQIHMGMRIW]SYQMKLXXEOI
&EWIHSR]SYVJEQMP]LIEPXLLMWXSV]ELIEPXLGEVITVSZMHIV
QE]SVHIVEKIRIXMGXIWXSVVIJIV]SYXSEKIRIXMG
GSYRWIPSVSVKIRIXMGMWX%WTIGM´GXIWXGERWLS[[LIXLIV]SY
EVIEJJIGXIHF]SVEXVMWOJSVEHMWIEWIERH[LMGLQYXEXMSRW
]SYQMKLXTEWWEPSRKXS]SYVGLMPHVIR=SYVLIEPXLGEVI
TVSZMHIVGERLIPT]SY
ˆ9RHIVWXERHXLIVIWYPXWSJ]SYVXIWXW
ˆ0IEVRSJER]XVIEXQIRXWJSVEHMWIEWIJSYRHF]XLIXIWX
%PPRI[FSVRFEFMIWFSVRMRXLI97ERHQER]SXLIVGSYRXVMIW
EVIXIWXIHJSVGIVXEMRKIRIXMGHMWIEWIWXLEXQE]QEOIXLIQ
WMGOMJRSXXVIEXIH8LMWMWGEPPIHRI[FSVRWGVIIRMRK
-JXLIWGVIIRMRKXIWX´RHWETVSFPIQELIEPXLGEVITVSZMHIVSV
WTIGMEPMWX[MPPLIPT]SYYRHIVWXERH[LEXGERFIHSRIXSLIPT
XLIFEF]
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, $ISEASESTHATRUNIN
THEFAMILY
-RXLIVIWXSJXLMWFSSOPIX[ITVSZMHI]SY[MXLI\EQTPIW
SJWSQIGSQQSRHMWIEWIWXLEXEJJIGXSYVGSQQYRMXMIWERH
JEQMPMIW*SVIEGLHMWIEWI[IMRGPYHIMRJSVQEXMSRYRHIVXLI
JSPPS[MRKLIEHMRKW
ˆ;LEXMWXLIHMWIEWI#
ˆ;LSMWEXVMWO#
ˆ,MRXWJSVLIEPXL
(3)7-8692-28,)*%1-0=#
(EARTDISEASE
,IEVXHMWIEWIWEVIXLIQEMRGEYWISJHIEXLMR%QIVMGEMRFSXL
QIRERH[SQIR8[SSJXLIQSWXGSQQSRHMWIEWIWXLEXMRZSPZI
XLILIEVXEVIGSVSREV]EVXIV]HMWIEWI'%(ERHLMKLFPSSH
TVIWWYVIL]TIVXIRWMSR
;,%8-7'3632%6=%68)6=(-7)%7)'%(#
ˆ-R'%(XLIEVXIVMIWXLEXWYTTP]FPSSHXSXLILIEVXQYWGPIGER
KIXLEVHERHREVVS[8LIEVXIVMIWREVVS[FIGEYWISJEFYMPHYT
SJTPEUYISVGLSPIWXIVSPSRXLIMRRIV[EPPW
ˆ'%(KIXW[SVWISZIVXMQI%WXLILIEVXKIXWPIWWFPSSHPIWW
S\]KIRMWHIPMZIVIHXSXLILIEVXQYWGPI;LIRXLILIEVXKIXW
ZIV]PMXXPIS\]KIR]SYGERHIZIPSTGLIWXTEMRSVELIEVXEXXEGO
ˆ'%(MWXLIQSWXGSQQSRGEYWISJLIEVXEXXEGOWEQSRK%QIVMGERW
;LSMWEXVMWO#
ˆ%FSYXQMPPMSR%QIVMGERWLEZI'%(
ˆ)ZIV]SRILEWWSQIVMWOJSVHIZIPSTMRKLIEVXHMWIEWI
ˆ'%(MWGEYWIHF]EGSQFMREXMSRSJKIRIXMGFEGOKVSYRHPMJIWX]PI
GLSMGIWERH]SYVIRZMVSRQIRX
ˆ*SVWSQITISTPIELIEPXLMIVHMIXERHMRGVIEWIHEGXMZMX]GER
GLERKIGLSPIWXIVSPPIZIPERHPS[IVVMWO3XLIVTISTPIRIIH
QSVILIPTWYGLEWQIHMGMRIXSPS[IVXLIMVVMWOSJLEZMRKE
LIEVXEXXEGO
,MRXWJSVLIEPXL
ˆ)EXLIEPXL]RYXVMXMSYWQIEPW
ˆ+IXEGXMZIERHI\IVGMWIVIKYPEVP]3FIWMX]MRGVIEWIW]SYVVMWO
ˆ8EOI]SYVTVIWGVMFIHQIHMGEXMSRWXSGSRXVSPLMKLGLSPIWXIVSP
LMKLFPSSHTVIWWYVIERHHMEFIXIW
ˆ-J]SYWQSOIXEPO[MXL]SYVLIEPXLGEVITVSZMHIVEFSYXUYMXXMRK
*SVQSVIMRJSVQEXMSR
(YOI,IEVX'IRXIV(YOI,IEVX'IRXIVSVK
'EVHMSZEWGYPEV'IRXIV(YOI6EPIMKL,SWTMXEP
[[[HYOIVEPIMKLLSWTMXEPSVKLIEPXLWIVZMGIWGEVHMS
%QIVMGER,IEVX%WWSGMEXMSR[[[EQIVMGERLIEVXSVK
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, (EARTDISEASECONTINUED
;,%8-7,-+,&033(46)7796)#
ˆ&PSSHTVIWWYVIMWEQIEWYVISJLS[LEVH]SYVLIEVXMW[SVOMRK
XSTYWLXLIFPSSHXLVSYKL]SYVEVXIVMIW
ˆ8LIVIEVIX[SRYQFIVWMREFPSSHTVIWWYVIVIEHMRK%RSVQEP
VIEHMRKMWEFSYXVIEHEW¨SZIV©8LI´VWX
RYQFIVQIEWYVIWXLIJSVGI]SYVLIEVXYWIWXSTYQTXLIFPSSH
8LIWIGSRHRYQFIVQIEWYVIWXLITVIWWYVIFIX[IIRLIEVXFIEXW
ˆ,MKLFPSSHTVIWWYVIQIERWXLEX]SYVLIEVXMW[SVOMRKXSSLEVH
3ZIVXMQILMKLFPSSHTVIWWYVIGERGEYWIOMHRI]JEMPYVILIEVX
EXXEGOWWXVSOIWERHSXLIVLIEPXLTVSFPIQW
;LSMWEXVMWO#
ˆ%TTVS\MQEXIP]SRIMRXLVIIEHYPXWLEWLMKLFPSSHTVIWWYVI
1ER]HSRSXIZIRORS[MXFIGEYWIXLIVIEVIRSGPIEV
W]QTXSQW
ˆ%JEQMP]LMWXSV]SJLMKLFPSSHTVIWWYVIMRGVIEWIW]SYVVMWO
JSVHIZIPSTMRKMXEXE]SYRKIVEKI
ˆ+VIEXIVVMWOGSQIW[MXLMRGVIEWMRKEKIFIMRKSZIV[IMKLXSV
LEZMRKEJEQMP]LMWXSV]SJL]TIVXIRWMSR
,MRXWJSVLIEPXL
ˆ(IGVIEWIXLIEQSYRXSJWEPX]SYIEX
ˆ1EMRXEMRELIEPXL][IMKLX
ˆ1EREKI]SYVWXVIWW
ˆ+IXEGXMZIERHI\IVGMWIVIKYPEVP]
ˆ0MQMXXLIEPGSLSP]SYHVMRO
ˆ+IXWGVIIRMRKVIKYPEVP]
(YOI7XVSOI'IRXIV[[[HYOILIEPXLSVK7IVZMGIW7XVSOI
4EXL[E]WXS'LERKIE[IPPRIWWTVSKVEQXLVSYKL(YOI0-:)
*360-*)[[[LVHYOIIHYISLWPMZIPMJIFPSSHLXQPTEXL[E]W
,IEVXHMWIEWIW]QTXSQWQE]RSXETTIEV YRXMPXLIHEQEKIMWEPVIEH]HSRI8EPOXS
]SYVJEQMP]EFSYXLIEVXHMWIEWIXSHE]
(3)7-8692-28,)*%1-0=#
-ENTAL$ISORDERS
;,%8%6)1)28%0(-736()67#
1IRXEPHMWSVHIVWEVILIEPXLGSRHMXMSRWXLEXGLERKIETIVWSR«W
XLMROMRKJIIPMRKWERHSVFILEZMSVMRE[E]XLEXHMWVYTXWXLIMV
HEMP]JYRGXMSRMRK
ˆ1IRXEPHMWSVHIVWZEV][MHIP]MRXIVQWSJW]QTXSQWERHWIZIVMX]
)\EQTPIWMRGPYHIHITVIWWMSRER\MIX]EYXMWQWGLM^STLVIRME
ERHEPGSLSPHITIRHIRGI
ˆ(ITVIWWMSRMWXLIPIEHMRKGEYWISJHMWEFMPMX]MRXLI97JSV
TISTPIEKI]IEVW
;LSMWEXVMWO#
ˆ%FSYXSRIMR´ZIEHYPXWI\TIVMIRGIEQIRXEPHMWSVHIV
IEGL]IEV
ˆ1IRXEPHMWSVHIVWEVIHMEKRSWIHFEWIHSRWTIGM´GTEXXIVRWSJ
W]QTXSQW
ˆ%JEQMP]LMWXSV]SJQIRXEPMPPRIWWMRGVIEWIW]SYVVMWOXSEPWS
HIZIPSTEQIRXEPHMWSVHIV
ˆ3JXIRQSVIXLERSRIX]TISJQIRXEPHMWSVHIVGERSGGYVXSKIXLIV
WYGLEWHITVIWWMSRERHER\MIX]
,MRXWJSVLIEPXL
ˆ&IE[EVISJTSWWMFPIW]QTXSQWERHWIIOIZEPYEXMSR[MXLE
QIRXEPLIEPXLTVSJIWWMSREP
ˆ1IRXEPHMWSVHIVWGERFIXVIEXIH[MXLQIHMGEXMSRGSYRWIPMRK
ERHSVFILEZMSVQSHM´GEXMSRXSLIPT]SYKSEFSYX]SYVHEMP]
PMJIEX[SVOLSQISVWGLSSP
*SVQSVIMRJSVQEXMSR
(YOI4IVWSREP%WWMWXERGI7IVZMGI4%7JVIIWLSVXXIVQ
GSYRWIPMRKEWWIWWQIRXERHVIJIVVEPWJSVIQTPS]IIWERHXLIMV
MQQIHMEXIJEQMP]QIQFIVWLVHYOIIHYTEW
'MKRE&ILEZMSVEP,IEPXLQIRXEPLIEPXLERHWYFWXERGIEFYWI
FIRI´XWJSV(YOIIQTPS]IIW
ETTWGMKREFILEZMSVEPGSQLSQILXQP
2EXMSREP-RWXMXYXISJ1IRXEP,IEPXLRMQLRMLKSZLIEPXL
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, $IABETESSUGARDISEASE
(MEFIXIWMWEWIVMSYWGLVSRMGHMWIEWIMR[LMGLFPSSHWYKEVPIZIPW
EVIEFSZIRSVQEP9RJSVXYREXIP]QER]TISTPIPIEVREFSYXXLIMV
HMEFIXIWEJXIVGSQTPMGEXMSRWHIZIPST%GGSVHMRKXSXLI%QIVMGER
(MEFIXIW%WWSGMEXMSRSRIXLMVHSJXLSWIEJJIGXIHF]X]TI
HMEFIXIWEVIYRE[EVIXLEXXLI]LEZIXLIHMWIEWI
7]QTXSQWSGGYV[LIRXLIFSH]JEMPWXSGLERKIWYKEVWXEVGLIW
ERHSXLIVJSSHMRXSIRIVK]8LMWLETTIRW[LIRXLIFSH]GERRSX
TVSHYGISVTVSTIVP]YWIELSVQSRIGEPPIHMRWYPMR7IVMSYW
GSQTPMGEXMSRWJVSQHMEFIXIWGERMRGPYHIFPMRHRIWWOMHRI]JEMPYVI
ERHHIEXL(MEFIXIWGERFIHIXIGXIHIEVP]ERHXVIEXQIRXGER
TVIZIRXSVHIPE]XLIWIWIVMSYWLIEPXLTVSFPIQW%GSQFMREXMSR
SJKIRIXMGWERHIRZMVSRQIRXEPJEGXSVWWYGLEWHMIXERHI\IVGMWI
TPE]WERMQTSVXERXVSPIMRHIZIPSTMRKXLIHMWIEWI
;,%8-78=4)(-%&)8)7#
ˆ8]TIHMEFIXIWYWYEPP]HIZIPSTWMR]SYRKGLMPHVIRSV
]SYRKEHYPXW
ˆ4ISTPI[MXLX]TIHMEFIXIWWXSTTVSHYGMRKXLIMVS[RMRWYPMR
;,%8-78=4)(-%&)8)7#
ˆ8]TIHMEFIXIWYWYEPP]HIZIPSTWMRTISTPISZIV]IEVWSJ
EKIXLSYKLMRVIGIRX]IEVWQSVI]SYRKTISTPIEVIHIZIPSTMRK
MXHYIXSTSSVHMIX
ˆ7GMIRXMWXWEVIPIEVRMRKQSVIEFSYXXLIWTIGM´GKIRIWMRZSPZIH
MRXLMWX]TISJHMEFIXIW
(3)7-8692-28,)*%1-0=#
;LS«WEXVMWO#
ˆ(MEFIXIWEJJIGXWETTVS\MQEXIP]SRIMRTISTPIMRXLI
9RMXIH7XEXIW
ˆ*MZIXSTIVGIRXSJ%QIVMGERW[LSEVIHMEKRSWIH[MXL
HMEFIXIWLEZIX]TIHMEFIXIW
ˆ'LMPHVIRSVWMFPMRKWSJMRHMZMHYEPW[MXLHMEFIXIWEVIQSVIPMOIP]
XSHIZIPSTMXXLIQWIPZIW
ˆ3FIWITISTPILEZIEKVIEXIVVMWOJSVX]TIHMEFIXIW
ˆ;SQIR[LSLEHEFEF]XLEX[IMKLIHQSVIXLERTSYRHWSV
[LSLEHKIWXEXMSREPHMEFIXIW[LMPITVIKRERXEVIEXVMWO
,MRXWJSVLIEPXL
ˆ)EXQSVIJVYMXWERHZIKIXEFPIWPIWWWYKEVERHJEX
ˆ+IXEGXMZIERHI\IVGMWIVIKYPEVP]
ˆ0SWI[IMKLXMJRIGIWWEV]
*SVQSVIMRJSVQEXMSR
2EXMSREP(MEFIXIW)HYGEXMSR4VSKVEQ
[[[RHITRMLKSZ
(MEFIXIW)HYGEXMSR4VSKVEQ(YOI,SWTMXEP
2YXVMXMSR
(MEFIXIW)HYGEXMSR'IRXIV(YVLEQ6IKMSREP,SWTMXEP
[[[HYVLEQVIKMSREPSVKWIVZMGIWRYXVMXMSR
(MEFIXIW'IRXIV(YOI6EPIMKL,SWTMXEP
[[[HYOIVEPIMKLLSWTMXEPSVKLIEPXLWIVZMGIWHMEFIXIW
(MEFIXIW7YTTSVX)HYGEXMSR+VSYT8IIV,SYWI
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, #ANCER
8LIVIEVIQER]X]TIWSJGERGIV'ERGIVMWGEYWIHF]XLIKVS[XL
ERHWTVIEHSJEFRSVQEPGIPPW8LSYKL]SYVVMWOSJKIXXMRKGERGIV
MRGVIEWIWEW]SYKIXSPHIVKIRIXMGERHIRZMVSRQIRXEPJEGXSVWEPWS
GEYWITISTPIXSFIEXELMKLIVVMWOJSVGIVXEMRX]TIWSJGERGIV
;,%8-7&6)%78'%2')6#
ˆ&VIEWXGERGIVMWEX]TISJGERGIVXLEXJSVQWMRXLIXMWWYIWSJ
XLIFVIEWXYWYEPP]XLIHYGXW
ˆ&VIEWXGERGIVMWSRISJXLIQSWXGSQQSRGERGIVWEQSRK
[SQIR%PXLSYKLMXMWVEVIQIRGEREPWSKIXFVIEWXGERGIV
ˆ1SWXFVIEWXGERGIVMWXVIEXEFPIMJJSYRHIEVP]
;LSMWEXVMWO#
ˆ3RISYXSJIMKLX%QIVMGER[SQIR[MPPHIZIPSTFVIEWXGERGIV
MRXLIMVPMJIXMQI
ˆ%QSRK,MWTERMG0EXMRE[SQIRFVIEWXGERGIVMWXLIQSWX
GSQQSRX]TISJGERGIV
ˆ&VIEWXGERGIVVMWOMWLMKLIVEQSRK[SQIR[LSWIGPSWIFPSSH
VIPEXMZIWLEZILEHXLMWHMWIEWI&SXL]SYVQSXLIV«WERHJEXLIV«W
JEQMP]LMWXSV]SJFVIEWXGERGIVMWMQTSVXERX
,MRXWJSVLIEPXL
ˆ;SQIRWLSYPHHSQSRXLP]FVIEWXWIPJI\EQW
ˆ%JXIVEKI[SQIRWLSYPHKIXERRYEPQEQQSKVEQW
ˆ%WOEFSYXKIRIXMGXIWXMRKJSVLMKLVMWOJEQMPMIW
ˆ)EXELIEPXL]FEPERGIHHMIX
ˆ+IXEGXMZIERHI\IVGMWIVIKYPEVP]
ˆ0MQMXXLIEPGSLSP]SYHVMRO
*SVQSVIMRJSVQEXMSR:
(YOI'SQTVILIRWMZI'ERGIV'IRXIV[[[GERGIVHYOIIHY
'ERGIV'IRXIV(YOI6EPIMKL,SWTMXEP
[[[HYOIVEPIMKLLSWTMXEPSVKLIEPXLWIVZMGIWGERGIV
(3)7-8692-28,)*%1-0=#
;,%8-7'3032%2(6)'8%0'%2')6#
ˆ'SPSRERH6IGXEPGERGIVW'6'EJJIGXXLIPS[IVTEVXSJXLIPEVKI
MRXIWXMRIGSPSR8LIVIGXYQMWXLIPEWXMRGLIWSJXLIGSPSR
ˆ1SWXGEWIWSJ'6'FIKMREWWQEPPKVS[XLWGEPPIHTSP]TW1SWX
TSP]TWEVIFIRMKRRSXGERGIV
ˆ%GSPSRSWGST]MWEWGVIIRMRKI\EQXLEXPSSOWJSVTSP]TW-JE
TSP]TMWHIXIGXIHMXGERFIVIQSZIHERHXIWXIHJSVGERGIVGIPPW
ˆ1SWX'6'MWXVIEXEFPIMJHIXIGXIHIEVP]
;LSMWEXVMWO#
ˆ'6'MWXLIVHQSWXGSQQSRGERGIVMRQIRERH[SQIR%FSYX
MRTISTPIMRXLI97[MPPHIZIPST'6'MRXLIMVPMJIXMQI
ˆ1SWX'6'MWHMEKRSWIHMRTISTPISZIVXLIEKISJ]IEVW
ˆ6MWOJSV'6'MWLMKLIWXEQSRKTISTPI[MXLGPSWIFPSSHVIPEXMZIW
[MXLXLMWGSRHMXMSR
,MRXWJSVLIEPXL
ˆ%JXIVEKIQIRERH[SQIRWLSYPHKIXEGSPSRSWGST]
ˆ-J]SYLEZIERMRGVIEWIHVMWOJSV'6'XEPOXS]SYVHSGXSVEFSYX
IEVP]WGVIIRMRKERHSVXIWXMRK
ˆ)EXELIEPXL]FEPERGIHHMIX
ˆ+IXEGXMZIERHI\IVGMWIVIKYPEVP]
ˆ0MQMXXLIEPGSLSP]SYHVMRO
*SVQSVIMRJSVQEXMSR:
(YOI'SQTVILIRWMZI'ERGIV'IRXIV[[[GERGIVHYOIIHY
%QIVMGER'ERGIV7SGMIX]%'7[[[GERGIVSVK
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, #ANCERCONTINUED
;,%8-746378%8)'%2')6#
ˆ4VSWXEXIGERGIVMWEHMWIEWIMR[LMGLGERGIVHIZIPSTWMRXLI
QEPIVITVSHYGXMZIW]WXIQWTIGM´GEPP]MREWQEPPKPERHRIEVXLI
FPEHHIVGEPPIHXLITVSWXEXI
ˆ7GMIRXMWXWHSRSX]IXORS[[LEXGEYWIWTVSWXEXIGERGIVFYX
HSGXSVWGERYWIGIVXEMRXIWXWXSHIXIVQMRI[LIXLIVEQER
QMKLXLEZITVSWXEXIGERGIV
;LSMWEXVMWO#
ˆ1IRSJEPPEKIWGERHIZIPSTTVSWXEXIGERGIV,S[IZIVQSVI
XLERIMKLXSYXSJGEWIWSGGYVMRQIRSZIVXLIEKISJ
ˆ4VSWXEXIGERGIVMWXLIQSWXGSQQSRX]TISJGERGIVHMEKRSWIH
MR,MWTERMG0EXMRSERH%JVMGER%QIVMGERQIR
ˆ,EZMRKEJEXLIVSVFVSXLIV[MXLTVSWXEXIGERGIVQSVIXLER
HSYFPIWEQER«WVMWOSJHIZIPSTMRKXLMWHMWIEWI8LIVMWO
MRGVIEWIW[MXLXLIRYQFIVSJVIPEXMZIW[LSLEZIMXIWTIGMEPP]
MJXLIVIPEXMZIW[IVI]SYRKPIWWXLER]IEVWSPH[LIRXLI]
KSXMX
,MRXWJSVLIEPXL
ˆ+IXVIKYPEVWGVIIRMRKW
ˆ*SPPS[ELIEPXL]HMIX
ˆ)\IVGMWIVIKYPEVP]
ˆ%JXIVEKILEZI]SYVTVSWXEXIGLIGOIH
*SVQSVIMRJSVQEXMSR:
(YOI'SQTVILIRWMZI'ERGIV'IRXIV[[[GERGIVHYOIIHY
(YOI'ERGIV4EXMIRX7IVZMGIW%7/(9/)
GERGIVHYOILIEPXLSVK
2'-'ERGIV-RJSVQEXMSR7IVZMGI'-7'%2')6
[[[GERGIVKSZ
(3)7-8692-28,)*%1-0=#
3ICKLECELLDISEASE
;,%8%6)7-2+0)+)2)(-736()67#
1SWXSJXLIGSRHMXMSRW]SYLEZIVIEHEFSYXMRXLMWFSSOPIXEVI
GEYWIHF]GSQFMREXMSRWSJVMWOJEGXSVWMRGPYHMRKJEQMP]LMWXSV]
IRZMVSRQIRXPMJIWX]PIGLSMGIWERHKIRIXMGGLERKIW;LIRE
GSRHMXMSRMWGEYWIHSRP]F]GLERKIW[MXLMREWMRKIKIRIMXMW
GEPPIHEWMRKPIKIRIHMWSVHIV
ˆ7MRKPIKIRIHMWSVHIVWXIRHXSFIQYGLPIWWGSQQSRERHGER
FITEWWIHHS[RMREJEQMP]
ˆ7SQIEVIMHIRXM´IHHYVMRKETVIKRERG]SVWSSREJXIVEGLMPHMW
FSVR3XLIVW[MPPRSXFIHMEKRSWIHYRXMPEHYPXLSSH
;,%8-77-'/0)')00(-7)%7)#
ˆ7MGOPIGIPPMWEWMRKPIKIRIHMWSVHIVMR[LMGLXLIVIHFPSSHGIPPW
LEZIEREFRSVQEPGVIWGIRXSVWMGOPIWLETI
ˆ8LIEFRSVQEPWLETIPIEHWXSERIQMEERHGERFPSGOFPSSHµS[
GEYWMRKTEMRERHSVKERHEQEKI
ˆ)ZIV]SRILEWX[SGSTMIWSJIZIV]KIRIMRXLIMVFSHMIW7MGOPI
GIPPHMWIEWISGGYVW[LIREGLMPHMRLIVMXWSRI7MGOPIGIPPKIRI
JVSQIEGLTEVIRXWSXLEXFSXLGSTMIWSJXLIMVKIRIEVIEJJIGXIH
;LSMWEXVMWO#
ˆ7MGOPIGIPPHMWIEWIEJJIGXWTISTPISJEPPVEGIWERHIXLRMG
FEGOKVSYRHW
ˆ-XMWQSWXGSQQSRMRTISTPI[MXL%JVMGERERH1IHMXIVVERIER
ERGIWXV]%FSYXMR%JVMGER%QIVMGERWEVIGEVVMIVWSJSRI
7MGOPIGIPPKIRI
ˆ1SWXWXEXIWMRGPYHMRK2SVXL'EVSPMREXIWXRI[FSVRFEFMIWJSV
7MGOPIGIPPHMWIEWI
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, Sickel cell disease continued
Hints for health
• Find out if you or your child has been tested for Sickle cell disease.
• Store this information with other important documents.
• Share this information with your children as they grow up.
For more information on Sickle cell disease:
Duke Comprehensive Sickle Cell Center
Adults (919) 684-6464 / Children (919) 684-3401
www.sicklecell.mc.duke.edu/SCDhome.html
Sickle Cell Disease Association of America
(800) 421-8453, www.sicklecelldisease.org
For more information on single gene disorders, contact
the Genetic and Rare Diseases (GARD) Information Center at
[email protected] or (888) 205-2311.
20 does it run in the family?
2ESOURCES
8LI¨(SIW-X6YR-RXLI*EQMP]#©XSSPOMXMRGPYHIWX[STMIGIW
XLEXGERLIPT]SYWYQQEVM^I]SYVLIEPXLMRJSVQEXMSRJSV
]SYVTVSZMHIV§XLIJEQMP]LIEPXLTSVXVEMXERHLIEPXLGEVI
TVSZMHIVGEVH=SYQE]EPWSLIEV]SYVLIEPXLGEVITVSZMHIV
GEPPEFamily Health PortraitE¨TIHMKVII©
)EGLJEQMP]ERHMRHMZMHYEPMWYRMUYIERHQE]LEZIKIRIXMG
HMWIEWIWSXLIVXLERXLIQENSVHMWIEWIWPMWXIHLIVI
*SVQSVIMRJSVQEXMSRZMWMX
0-:)*360-*)*VIIIQTPS]II[IPPRIWWTVSKVEQMRGPYHMRK
MRHMZMHYEPRYXVMXMSRERH´XRIWWGSRWYPXW[IMKLXQEREKIQIRX
ERH´XRIWWTVSKVEQWERHLIEPXLWGVIIRMRKW
[[[LVHYOIIHYISLWPMZIPMJI
(YOI4VSWTIGXMZI,IEPXL8SSPWERHWIVZMGIWXSLIPT]SY
EWWIWWERHQEREKI]SYVLIEPXLVMWOW
HYOITVSWTIGXMZILIEPXLSVK
(YOI,IEPXLSVK-RJSVQEXMSREFSYXTL]WMGMERWGPMRMGEPERH
TEXMIRXWIVZMGIWERHSRPMRIERLIEPXLPMFVEV]%7/(9/)
&PYI)\XVEW*VIILIEPXLQEREKIQIRXWIVZMGIWERHTVSKVEQW
JSV&PYI'VSWW&PYI7LMIPHQIQFIVWXSLIPTXEOIGLEVKISJ
]SYVLIEPXL[[[FGFWGSQ
(MWIEWI-RJS7IEVGL
[[[KIRIXMGEPPMERGISVK
2EXMSREP0MFVEV]SJ1IHMGMRI
[[[RPQRMLKSZWIVZMGIWKIRIXMGWCVIWSYVGIWLXQP
%+9-()*3692()678%2(-2++)2)8-'7%2(,)%08, ;;;,6(9/))(90-:)*360-*)
4LSRI
;;;+)231)(9/))(9
4LSRI
;;;+)2)8-'%00-%2')36+
'SRRIGXMGYX%ZI2;7YMXI;EWLMRKXSR('
4LSRI*E\MRJS$KIRIXMGEPPMERGISVK