Reduced rate of sickle-related complications in Brazilian patients carrying HbF-promoting alleles at the BCL11A and HMIP-2 loci.

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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.

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Author and article information

Journal

Journal ID (iso-abbrev): Br. J. Haematol.

Title: British journal of haematology

Publisher: Wiley

ISSN (Electronic): 1365-2141

ISSN (Print): 0007-1048

Publication date (Electronic): May 2016

Volume: 173

Issue: 3

Affiliations

[1 ] Haematology Centre, School of Medicine, University of Campinas- UNICAMP, Campinas, Brazil.

[2 ] Department of Genetics, Federal University of Pernambuco, Recife, Brazil.

[3 ] Haematology and Haemotherapy Foundation of Pernambuco (HEMOPE), Recife, Brazil.

[4 ] Department of Molecular Haematology, Division of Cancer Studies, King's College London Faculty of Life Sciences & Medicine, London, UK.

[5 ] Sickle Cell Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD, USA.

Article

DOI: 10.1111/bjh.13961

PubMed ID: 26888013

SO-VID: 86185425-defc-4934-ace3-e35daf79ae01

History

Keywords: HbF quantitative trait loci,HMIP-2,BCL11A

Data availability:

Keywords: HbF quantitative trait loci, HMIP-2, BCL11A

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