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巴西一位镰状细胞贫血症患者 G(γ)基因 5'端 XmnI 多态性位点-胎儿血红蛋白浓度、血液学和临床特征。

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.

机构信息

Department of Biology, UNESP-São Paulo State University, São José do Rio Preto, São Paulo State (SP), Brazil.

出版信息

Arch Med Sci. 2010 Oct;6(5):822-5. doi: 10.5114/aoms.2010.17101. Epub 2010 Oct 26.

DOI:10.5114/aoms.2010.17101
PMID:22419945
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3298355/
Abstract

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.

摘要

我们报告了一例 20 岁女性镰状细胞贫血患者，其 HbF 浓度为 15.8%。该患者未使用羟基脲，也未定期接受输血。该患者从未出现过镰状细胞贫血的慢性表现，仅有轻度疼痛危象。经实验室检查，我们发现该患者为 HbS 纯合子，带有班图/非典型单倍型，且 XmnI 位点为杂合子。XmnI 位点对 HbF 表达的影响可以解释镰状细胞贫血中这种单倍型相关性临床特征改善的原因。

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本文引用的文献

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Higher fetal hemoglobin concentration in patients with sickle cell disease in eastern India reduces frequency of painful crisis.印度东部镰状细胞病患者较高的胎儿血红蛋白浓度可降低疼痛性危机的发生频率。
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