Case report<br><i>The XmnI</i> polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

Édis Belini Júnior; Rodolfo D. Cançado; Claudia R.B. Domingos

doi:10.5114/aoms.2010.17101

eISSN: 1896-9151
ISSN: 1734-1922

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abstract:

Case report
The XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

Édis Belini Júnior

,

Rodolfo D. Cançado

,

Claudia R.B. Domingos

Arch Med Sci 2010; 6, 5: 822-825

DOI: https://doi.org/10.5114/aoms.2010.17101

Online publish date: 2010/10/27

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AMA

Belini Júnior É, D. Cançado R, Domingos C. Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features. Archives of Medical Science. 2010;6(5):822-825. doi:10.5114/aoms.2010.17101.

APA

Belini Júnior, É., D. Cançado, R.,  & Domingos, C. (2010). Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features. Archives of Medical Science, 6(5), 822-825. https://doi.org/10.5114/aoms.2010.17101

Chicago

Belini Júnior, Édis, Rodolfo D. Cançado,  and Claudia R.B. Domingos. 2010. "Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features". Archives of Medical Science 6 (5): 822-825. doi:10.5114/aoms.2010.17101.

Harvard

Belini Júnior, É., D. Cançado, R.,  and Domingos, C. (2010). Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features. Archives of Medical Science, 6(5), pp.822-825. https://doi.org/10.5114/aoms.2010.17101

MLA

Belini Júnior, Édis et al. "Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features." Archives of Medical Science, vol. 6, no. 5, 2010, pp. 822-825. doi:10.5114/aoms.2010.17101.

Vancouver

Belini Júnior É, D. Cançado R, Domingos C. Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features. Archives of Medical Science. 2010;6(5):822-825. doi:10.5114/aoms.2010.17101.

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.

keywords:

Case reportThe XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

Édis Belini Júnior , Rodolfo D. Cançado , Claudia R.B. Domingos

sickle cell disease, HbF expression, clinical manifestation

Case report
The XmnI polymorphic site 5’ to the gene Gγ in a Brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features

Édis Belini Júnior

,

Rodolfo D. Cançado

,

Claudia R.B. Domingos