DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil

Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce sickle cell anemia severity due to its ability to inhibit HbS polymerization and also reduce the mean corpuscular HbS concentration. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs748214; BCL11A, rs46...

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Bibliographic Details
Published in:Blood cells, molecules, & diseases molecules, & diseases, 2014-12, Vol.53 (4), p.176-179
Main Authors: Cardoso, Greice Lemos, Diniz, Isabela Guerreiro, Martins da Silva, Aylla Núbia Lima, Cunha, Daniele Almeida, da Silva Junior, Josivaldo Soares, Carvalho Uchôa, Camila Tavares, dos Santos, Sidney Emanuel Batista, Trindade, Saide Maria Sarmento, Cardoso, Maria do Socorro de Oliveira, Guerreiro, João Farias
Format: Article
Language:English
Subjects:
Adolescent
Adult
African Continental Ancestry Group
Anemia, Sickle Cell - ethnology
Anemia, Sickle Cell - genetics
Anemia, Sickle Cell - pathology
Brazilian patients
Child
DNA, Intergenic
European Continental Ancestry Group
Female
Fetal hemoglobin
Fetal Hemoglobin - genetics
gamma-Globins - genetics
Genetic Loci
Genetic modifier
Hemoglobin, Sickle - genetics
Humans
Indians, South American
Male
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Sickle cell anemia
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Summary:Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce sickle cell anemia severity due to its ability to inhibit HbS polymerization and also reduce the mean corpuscular HbS concentration. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs748214; BCL11A, rs4671393; and HBS1L-MYB, rs28384513, rs489544 and rs9399137) and HbF levels in SCA patients from the State of Pará, Northern Brazil. Our results showed that high levels of HbF were primarily influenced by alleles of BCL11A (rs4671393) and HMIP (rs4895441) loci, and to a lesser extent by rs748214 Gγ-globin (HBG2) gene promoter. The SNPs rs4671393 and rs4895441 explained 10% and 9.2%, respectively, of the variation in HbF levels, while 4.1% of trait variation was explained by rs748214. The results can be considered as in accordance with the pattern of ancestry displayed by the SCA patients: 39.6% European, 29.6% African and 30.8% Native American, and reinforce the suggestion that studies of association between genetic modifiers and clinical and laboratory manifestations in Brazil must be controlled by ancestry.
ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2014.07.006