Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/319840
Type: Artigo de Periódico
Title: Reduced Rate Of Sickle-related Complications In Brazilian Patients Carrying Hbf-promoting Alleles At The Bcl11a And Hmip-2 Loci
Author: Leonardo
FC; Brugnerotto
AF; Domingos
IF; Fertrin
KY; de Albuquerque
DM; Bezerra
MAC; Araujo
AS; Saad
STO; Costa
FF; Menzel
S; Conran
N; Thein
SL
Abstract: The presence of high levels of fetal haemoglobin (HbF) provides well-validated clinical benefits to patients with sickle cell anaemia (SCA). Nevertheless it has been difficult to show clear direct effects of the known genetic HbF modifiers, such as the enhancer polymorphisms for haematopoietic transcription factors BCL11A and MYB, on SCA severity. Investigating SCA patients from Brazil, with a high degree of European genetic admixture, we have detected strong effects of these variants on HbF levels. Critically, we have shown, for the first time, that the presence of such HbF-promoting variants leads to a reduced rate of SCA complications, especially stroke.
Subject: Hbf Quantitative Trait Loci
Bcl11a
Hmip-2
Editor: WILEY-BLACKWELL
Citation: British Journal Of Haematology. WILEY-BLACKWELL, n. 173, n. 3, p. 456 - 460.
Rights: fechado
Identifier DOI: 10.1111/bjh.13961
Address: http://onlinelibrary-wiley-com.ez88.periodicos.capes.gov.br/doi/10.1111/bjh.13961/abstract
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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