rev bras hematol hemoter. 2015;37(2):140–141
w w w . r b h h . o r g
Revista
Brasileira
de
Hematologia
e
Hemoterapia
Brazilian
Journal
of
Hematology
and
Hemotherapy
Letter
to
the
Editor
Haplotype
of
the

S
-globin
cluster
in
patients
with
sickle
cell
anemia
at
a
University
Hospital
in
the
Triangulo
Mineiro,
Minas
Gerais
DearEditor,
Haplotypes have been useful markers for anthropological studiesandtodefinetheflowoftheSalleleinhuman popu-lations.Theyhavedifferentethnicandgeographicalorigins: theCentralAfricanRepublic(CAR)typeoriginatedinCentral southernandEasternAfrica,theBenintypeoriginatedinthe central-westofAfrican,theSenegaltypeischaracteristicof theAtlanticcoastregion,theCameroontypeisfoundwithin thegeographicalboundariesofthecountryandasmallpart ofthewestcoastofAfricaand theArabian-IndianorAsian typeispresentintheArabianPeninsulaandinIndia.Forms thatdonotcorrespondtothefivestandardtypescommonly associatedwiththeSgenearecalledatypical.1
Consideringtheincidenceofsicklecellanemiathisstudy aimedtodeterminethefrequencyofthe haplotypesinthe regionofUberaba.
Thestudysampleconsistedof61homozygousSSpatients confirmedbyelectrophoresis.
Table1shows the occurrenceofthe genotypesand the haplotypes.
There is a clear predominance of the CAR haplotype (64.8%),comparedtoBEN(22.1%),ATP(12.3%)andCAM(0.8%). Findingsaresimilartothosedescribedindifferentregionsof Brazil.InRibeirãoPreto(SP)therewasapredominanceofthe CAR(66.2%)comparedtotheBENhaplotype(23%).2The
pre-dominanceofCAR,followedbyBEN,wasalsoobservedintwo other studies,withfrequenciesof 62.2%and 73.1% forthe CARversus23.0% and25.4% forBEN,respectively.3,4 InRio
deJaneiro,the CAR(54%)wasmorefrequentthanthe BEN (44.6%),5similartowhatwasobservedinPortoAlegre,6where
thefrequencywas79.6%fortheCARand18.4%forBenin.In PernambucothefrequencyofCARwas79.1%,7inRioGrande
doNorte75.5%8andFortalezaitwas66.2%.9TheCAM
haplo-typeinthisstudyshowedalowrate(0.8%)similartotherate describedinSalvador(BA),Belém(PA),andPernambuco,with frequenciesof1.2%,1.3%and0.8%,respectively.7,10,11
Thepresenceof12.3%ofatypicalchromosomeswas simi-lartotheoccurrenceobservedbySilvaetal.inFortaleza.9
In relation to genotypes, the CAR/CAR predominated (50.8%),followedbyCAR/ATP,CAR/BENandBEN/BENwitha
Table1–Distributionofgenotypesandhaplotypes.
n(%)
Genotype
ATP/ATP 2(3.3)
BEN/ATP 3(4.9)
BEN/BEN 8(13.1)
CAR/ATP 8(13.1)
CAR/BEN 8(13.1)
CAR/CAR 31(50.8)
CAR/CAM 1(1.6)
Total–n(%) 61(100)
Haplotype
CAR 79(64.8)
BEN 27(22.1)
CAM 1(0.8)
ATP 15(12.3)
CAR:CentralAfricanRepublic;BEN:Benin;CAM:Cameroon;ATP:
atypical.
similarfrequency(13.1%).Thesefindingsareconsistentwith those found byCabral et al.8 in RioGrandedo Nortewith
58.5%fortheCAR/CARand16.9%fortheCAR/BEN.However, our results are not similar to those described by Belisário etal.12inBeloHorizonte,wherethefrequencieswere39.4%
forCAR/CAR,33.2%forCAR/BEN,23.6%forBEN/BEN,0.9%for CAR/ATP,0.9%forBEN/ATPand0.9%forBEN/Arabian-Indian. Thisdifferencemightbeexplainedbythesizeofthestateof MinasGeraisanditsterritorialboundarywithseveralother states.
ThisisthefirststudyintheregionoftheTrianguloMineiro, andmaycontributetodeterminingtheflowoftheS-globin inthestateofMinasGerais.Inaddition,thisstudycanserve asapossibletoolforanthropologicalstudiesonAfricanorigin intheStateandinBrazil.
Conflicts
of
interest
revbrashematolhemoter.2015;37(2):140–141
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1. EmburySH,HebbelRP,MohandasN,SteinbergMH.Sicklecell disease:basicprinciplesandclinicalpractice.NewYork: RavenPress;1994.
2. ZagoMA,FigueiredoMS,BantuOgoSH.Sclusterhaplotype predominatesamongBrazilianblacks.AmJPhysAnthropol. 1992;88(3):295–8.
3. Gonc¸alvesMS,BomfimGC,MacielE,CerqueiraI,LyraI, ZanetteA,etal.S-haplotypesinsicklecellanemiapatients fromSalvador,Bahia,NortheasternBrazil.BrazJMedBiol Res.2003;36(10):1283–318.
4. FigueiredoMS,KerbauyJ,Gonc¸alvesMS,ArrudaVR,SaadSt SonatiMF,etal.Effectofalpha-thalassemiaandbeta-globin geneclusterhaplotypesontheandclinicalfeaturesof sickle-cellanemiainBrazil.AmJHematol.1996;53(2):72–6.
5. FleuryMK.Haplótiposdoclusterdaglobinabetaem pacientescomanemiafalciformenoRiodeJaneiro:Aspectos clínicoselaboratoriais.RevBrasAnalClin.2007;39(2):89–93.
6. WagnerS,FredrishJ,JobF,HutzM.Caracterizac¸ãoMolecular depacientescomanemiafalciformedePortoAlegre.Ann GenetMolBiol.1996;19(Suppl):244.
7. BezerraMA,SantosMN,AraujoAS,GomesYM,AbathFG, BandeiraFM.Molecularvariationslinkedtothegroupingof beta-andalpha-globingenesinneonatalpatientswithsickle celldiseaseintheStateofPernambuco,Brazil.Hemoglobin. 2007;31(1):83–8.
8. CabralCH.Determinac¸ãodehaplótiposdogenebetaSem pacientescomanemiafalciforme.RevBrasHematolHemoter. 2010;32(6):491–2.
9. SilvaLB,Gonc¸alvesRP,RobenhorstSH.Análisedoshaplótipos daanemiafalciformeemFortalezarevelaasorigensétnicas dapopulac¸ãocearense.JBrasPatolMedLab.2009;45(2):115–8.
10.AdornoEV,ZabetteA,LyraI,SeixasMO,ReisMG,Gonc¸alves MS.Clinicalandmolecularcharacteristicsofsicklecell anemiainthenortheastofBrazil.GenetMolBiol. 2008;31(3):621–5.
11.CardosoGL,GuerreiroJF.Molecularcharacterizationofsickle cellanemiaintheNorthernBrazilianstateofPará.AmJHum Biol.2010;22(5):573–7.
12.BelisárioAR,MartinsML,BritoAM,RodriguesCV,SilvaCM, VianaMB.B-globingeneclusterhaplotypesinacohortof221 childrenwithsicklecellanemiaorS-thalassemiaandtheir associationwithclinicalandhematologicalfeatures.Acta Haematol.2010;124(3):162–70.
AlexandraSilvaLeala,∗,PauloRobertoJulianoMartinsa,b,
MarlyAparecidaSpadottoBalarina
aUniversidadeFederaldoTriânguloMineiro(UFTM),Uberaba,
MG,Brazil
bHemocentroRegionaldeUberaba,Uberaba,MG,Brazil
∗Correspondingauthorat: RuaGetúlioGuaritá, 250,4◦ andar,
NossaSenhoradaAbadia,38025-440Uberaba,MG,Brazil. E-mailaddress:[email protected](A.S.Leal).
Received14May2014 Accepted21October2014 Availableonline2February2015
http://dx.doi.org/10.1016/j.bjhh.2015.01.004
