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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Fetal Haemoglobin and B-globin Gene Cluster Haplotypes among Sickle Cell Patients in Chhattisgarh
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Fetal Haemoglobin and B-globin Gene Cluster Haplotypes among Sickle Cell Patients in Chhattisgarh

机译：恰蒂斯加尔邦镰状细胞患者的胎儿血红蛋白和B-球蛋白基因簇单倍型

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Background: Foetal Haemoglobin (HbF) is the best-known genetic modulator of sickle cell anaemia, which varies dramatically in concentration in the blood of these patients. The patients with SCA display a remarkable variability in the disease severity. High HbF levels and the B-globin gene cluster haplotypes influence the clinical presentation of sickle cell disease. To identify the genetic modifiers which influence the disease severity, we conducted a B-globin haplotype analysis in the sickle cell disease patients of Chhattisgarh.Aim: The foetal haemoglobin and the B-globin gene haplotypes of the sickle cell trait and the sickle cell disease patients from Chhattisgarh were investigated.Materials and Method: A total of 100 sickle cell patients (SS), 50 sickle cell trait patients (AS) and 50 healthy control individuals were included in the present study. The distribution of the B-globin gene haplotype was done by the PCR-RFLP method.Result: PCR-RFLP showed that the homozygous Arab-Indian haplotype (65%) was the most frequent one, followed by the heterozygous Arab-Indian haplotype (11%) in the sickle cell patients (SS), while the AS patients had a higher frequency of the heterozygous Arab-Indian haplotype (38%) in comparison to homozygous one (32%). Four atypical haplotypes, 3 Benin and 1 Cameroon were also observed, although they were in lower frequencies. In the present study, the HbF levels were higher in the AS and the SS patients, with one or two Arab-Indian haplotypes as compared to the other haplotypes.Conclusion: The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi-Arabia or India and it was associated with higher HbF levels and a milder disease severity.
机译：背景：胎儿血红蛋白（HbF）是镰状细胞贫血最著名的遗传调节剂，这些患者血液中的浓度差异很大。 SCA患者在疾病严重程度方面表现出显着的变异性。高HbF水平和B-球蛋白基因簇单倍型影响镰状细胞疾病的临床表现。为了确定影响疾病严重程度的遗传修饰因子，我们对Chhattisgarh的镰状细胞病患者进行了B-球蛋白单倍型分析。目的：镰状细胞性状和镰状细胞病的胎儿血红蛋白和B-球蛋白基因单倍型材料与方法：本研究共纳入100名镰状细胞患者（SS），50名镰状细胞性状患者（AS）和50名健康对照者。结果：PCR-RFLP显示纯合的阿拉伯-印度单倍型（65％）是最常见的B-珠蛋白基因单倍型的分布，其次是杂合的阿拉伯-印度单倍型（镰状细胞患者（SS）中有11％），而纯合子1（32％）中，AS患者的杂合阿拉伯-印度单倍型（38％）频率更高。尽管它们出现的频率较低，但也观察到了四个非典型单倍型，即贝宁3个和喀麦隆1个。在本研究中，AS和SS患者的HbF水平较高，具有一种或两种阿拉伯-印度单倍型相比其他单倍型。结论：以阿拉伯-印度单倍型为主要单倍型可能是暗示性的流入/流出沙特阿拉伯或印度的基因，与HbF水平升高和疾病轻度相关。

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