The XmnI polymorphic site 5’ to the gene G(γ) in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

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 lab...

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Detalles Bibliográficos
Autores principales: Belini Júnior, Édis, Cançado, Rodolfo D., Domingos, Claudia R.B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298355/
https://www.ncbi.nlm.nih.gov/pubmed/22419945
http://dx.doi.org/10.5114/aoms.2010.17101
Descripción
Sumario: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 XmnI site. The influence of the XmnI site on the expression of HbF can explain the amelioration in clinical features in this haplotype association in a case of sickle cell anaemia.

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