The Xmnl polymorphic site 5 ' to the gene G gamma in a Brazilian patient with sickle cell anaemia - fetal haemoglobin concentration, haematology and clinical features
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Data
2010-10-01
Autores
Belini Junior, Edis [UNESP]
Cancado, Rodolfo D.
Domingos, Claudia R. B. [UNESP]
Título da Revista
ISSN da Revista
Título de Volume
Editor
Termedia Publishing House Ltd
Resumo
We report a 20-year-old female with sickle cell anaemia and with an HbF concentration of 15.8%. The patient was not using hydroxyurea and was not receiving regular blood transfusions. The patient never had chronic manifestations of sickle cell anaemia, only pain crises of a mild intensity. After laboratory tests, we found that she was homozygous for HbS with the Bantu/atypical haplotype, and was heterozygous for the Xmnl site. The influence of the Xmnl site on the expression of HbF can explain the amelioration in clinical features in this haplotype association in a case of sickle cell anaemia.
Descrição
Palavras-chave
Sickle cell disease, HbF expression, clinical manifestation
Como citar
Archives of Medical Science. Poznan: Termedia Publishing House Ltd, v. 6, n. 5, p. 822-825, 2010.