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首页> 外文期刊>Journal of Clinical and Diagnostic Research >Aberrant Heterosis In Hemoglobinopathies With Special Reference To Beta-Thalassemia And Structurally Abnormal Hemoglobins E And S In Orissa, India
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Aberrant Heterosis In Hemoglobinopathies With Special Reference To Beta-Thalassemia And Structurally Abnormal Hemoglobins E And S In Orissa, India

机译：血红蛋白病的异常杂种优势，特别涉及印度奥里萨邦的β-地中海贫血和结构异常的血红蛋白E和S

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The population of India exhibits a wide range of genetic heterogeneity and, ecological and biological diversity including the reservoir for occurrence of a large number of abnormal hemoglobins and thalassemias in the world. Orissa state has nurtured ecological, cultural and genetic diversity of hemoglobinopathies, which has become a major genetic and public health problem in both tribal and nontribal inhabitants. Prospective studies are lacking in India. In Orissa, prospective studies of referral index cases of hemoglobinopathies provide most valuable data for analysis with respect to introspection and re-evaluation from research point of view. Intravenous blood samples were collected after obtaining informed consent from each index case of double heterozygosity for hemoglobinopathies. Background data of each individual were recorded like age, sex, caste, place of origin, reproductive history, consanguinity, etc. Twelve index cases of sickle cell-β-thalassemia and 9 index cases of hemoglobin E-β-thalassemia with anemia were subjected to detailed hematological and family genetic investigations. Routine standard hematological and biochemical investigations were carried out. This study highlights the rare occurrence of double heterozygosity of abnormal hemoglobins, i.e. Hb D, E and S with β-thalassemia mutation for the first time from Orissa. Study showed that index cases with Hb E-β-thalassemia and sickle cell-β-thalassemia manifest variable clinical, hematological and prognostic profile. High levels of fetal hemoglobin in patients reduce the severity of clinical symptoms in some but not in others. β-thalassemia or Hb E/S carrier mothers during their reproductive life either had spontaneous abortions or neonatal deaths. Aberrant heterosis for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where abnormal hemoglobins and β-thalassemia are highly prevalent. This study provides for the first time a comprehensive database on the occurrence of double heterozygosity, testifying the genetic diversity and ethnic admixture in Orissa, India.
机译：印度人口表现出广泛的遗传异质性，以及生态和生物多样性，包括世界上大量异常血红蛋白和地中海贫血发生的发生地。奥里萨邦（Orissa state）培育了血红蛋白病的生态，文化和遗传多样性，这已成为部落和非部落居民的主要遗传和公共卫生问题。印度缺乏前瞻性研究。在奥里萨邦，血红蛋白病转诊指数病例的前瞻性研究提供了最有价值的数据，可用于从研究的角度进行内省和重新评估的分析。在双血红蛋白病的双重杂合性的每个指标病例获得知情同意后，收集静脉血样。记录每个人的背景数据，如年龄，性别，种姓，产地，生殖史，血缘关系等。对十二指肠镰状β-地中海贫血的指标病例和9对血红蛋白E-β地中海贫血症的贫血的指标患者进行了研究。进行详细的血液学和家庭遗传学调查。进行了常规的血液学和生化常规检查。这项研究突显了罕见的异常血红蛋白双重杂合性的罕见发生，即Orissa首次出现具有β地中海贫血突变的Hb D，E和S.研究表明，HbE-β地中海贫血和镰状细胞β地中海贫血的索引病例表现出可变的临床，血液学和预后情况。患者中高含量的胎儿血红蛋白可降低某些患者的临床症状严重程度，但不能降低其他患者的临床症状严重程度。 β地中海贫血或Hb E / S携带者的母亲在其生殖生活中要么自然流产，要么新生儿死亡。血红蛋白病的异常杂种优势，例如发生结构异常的血红蛋白（Hb S和Hb E）的β地中海贫血突变，是一种罕见的现象，但仅在异常血红蛋白和β地中海贫血非常普遍的那些地区或社区，才会出现严重的临床表现。这项研究首次提供了关于双重杂合性发生的综合数据库，证明了印度奥里萨邦的遗传多样性和种族混合。

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