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
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author Belini Júnior, Édis
Cançado, Rodolfo D.
Domingos, Claudia R.B.
author_facet Belini Júnior, Édis
Cançado, Rodolfo D.
Domingos, Claudia R.B.
author_sort Belini Júnior, Édis
collection PubMed
description 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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spelling pubmed-32983552012-03-14 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 Belini Júnior, Édis Cançado, Rodolfo D. Domingos, Claudia R.B. Arch Med Sci Case Report 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. Termedia Publishing House 2010-10 2010-10-26 /pmc/articles/PMC3298355/ /pubmed/22419945 http://dx.doi.org/10.5114/aoms.2010.17101 Text en Copyright © 2010 Termedia & Banach http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial 3.0 Unported License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Belini Júnior, Édis
Cançado, Rodolfo D.
Domingos, Claudia R.B.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort xmni polymorphic site 5’ to the gene g(γ) in a brazilian patient with sickle cell anaemia – fetal haemoglobin concentration, haematology and clinical features
topic Case Report
url 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
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