Department of Hematology, AIIMS, New Delhi, India.
Mediterr J Hematol Infect Dis. 2012;4(1):e2012001. doi: 10.4084/MJHID.2012.001. Epub 2012 Jan 15.
Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle homozygous and 75 sickle beta thalassemia patients were included and 5 ml blood sample was collected from them. Screening of sickle patients was done by HPLC. An automated cell analyzer SYSMEX (K-4500 Model) was used to analyze the Complete Blood Count of patients. Xmn1 polymorphism analysis was done by PCR-RFLP and one-way ANOVA test was applied to analysis of variance between groups. Among the sickle patients 27 were heterozygous (+/-) and 19 were homozygous (+/+) while 30 were heterozygous (+/-) and 24 were homozygous (+/+) in sickle β-thalassemia patients. Extremely significant differences (p-value <0.001) of hematological parameters seen among patients with Xmn1 carrier and without the Xmn1 carrier. In our cases the clinical symptoms were barely visible and higher HbF level with Xmn1 carriers were found. Presence of Xmn1 polymorphism in sickle cell patients with higher HbF were phenotypically distinguished in the sickle cell patients. We conclude that the phenotypes of Indian sickle cell patients were greatly influenced by Xmn1polymorphism.
Xmn1 多态性是一个已知的因素，它可以增加胎儿血红蛋白的产生。在血液遗传疾病中，地中海贫血和镰状细胞病在印度的遗传疾病中占很大比例。我们的目的是验证 Xmn1 多态性作为镰状细胞病患者的调节因子的作用，以及该多态性在印度镰状细胞病患者中的频率。纳入了 60 名镰状纯合子和 75 名镰状β地中海贫血患者，并从他们身上采集了 5 毫升血样。通过 HPLC 对镰状细胞患者进行筛查。使用自动细胞分析仪 SYSMEX（K-4500 型）分析患者的全血细胞计数。通过 PCR-RFLP 进行 Xmn1 多态性分析，应用单因素方差分析检验组间方差。在镰状细胞患者中，27 名是杂合子（+/-），19 名是纯合子（+/+），而在镰状β-地中海贫血患者中，30 名是杂合子（+/-），24 名是纯合子（+/+）。在 Xmn1 携带者和非 Xmn1 携带者的患者中，观察到血细胞参数有极显著差异（p 值<0.001）。在我们的病例中，临床症状几乎看不见，Xmn1 携带者的 HbF 水平较高。在镰状细胞病患者中存在 Xmn1 多态性，与 HbF 较高的患者在表型上有区别。我们得出结论，Xmn1 多态性极大地影响了印度镰状细胞病患者的表型。
