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Distribution of Sickle Cell Gene in Korku Tribe of Central India

机译:印度中部Korku部落的镰状细胞基因分布

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Background: The intention of the study was not only to reveal current prevalence rate of sickle cell disease (SCD) but also to adduce most probable reason for its high prevalence in Korku population of Central India and its implications on their health. Methods: During the study, a total of 865 subjects belonging to different age groups (0-60 years) were randomly sampled for estimating the incidence of sickle cell genotype in them. Blood samples were collected from all (n=865) individuals and positive samples were subjected to cellulose acetate Hb electrophoresis at pH 8.6 for confirmation of their patterns. Prepared questionnaire and previous medical reports were used as a tool to diagnose the clinical presentations of SCD. Result: Prevalence of sickle cell trait among Korku people was found to be 5.3% (46/865), of which 4.4% with heterozygous gene AS (Carrier) whereas 0.9% with homozygous recessive gene SS (Disease). The frequency of SCD gene was reported more in males and in lower age groups especially in people belonging to the age group of 0-25 years. In homozygous individuals 87.8% of them had no history of pain crisis or blood transfusion. In heterozygous patients most frequently observed clinical features were body pain, joint pain, fever, abdominal pain, pallor and limited complaints about chest pain and intermittent jaundice. No complaint of gall stone was reported. The data also reflects high rate of mortality especially in children. Conclusion: The high degree of consanguinity and lack of knowledge about sickle cell disorder are major reasons for high SCD gene frequency amongst Korku tribesmen. Premarital screening and genetic counseling needs to be considered as tools to reduce its rate of prevalence.
机译:背景:该研究的目的不仅在于揭示镰状细胞疾病(SCD)的当前患病率,还在于推断其在印度中部Korku人群中的高患病率及其对健康的影响的最可能原因。方法:在研究过程中,随机抽取了865个不同年龄段(0-60岁)的受试者,以评估他们中镰状细胞基因型的发生率。从所有(n = 865)个体中采集血液样本,并对阳性样本进行pH 8.6的醋酸纤维素Hb电泳以确认其模式。准备的问卷和以前的医学报告被用作诊断SCD临床表现的工具。结果:发现Korku人中镰状细胞性状的患病率为5.3%(46/865),其中杂合基因AS(携带者)为4.4%,纯合隐性基因SS(疾病)为0.9%。 SCD基因的频率在男性和较低年龄组尤其是在0-25岁年龄组的人群中有所报道。在纯合子个体中,有87.8%的人没有疼痛危机或输血史。在杂合症患者中,最常观察到的临床特征是身体疼痛,关节痛,发烧,腹痛,面色苍白以及对胸痛和间歇性黄疸的抱怨有限。没有抱怨胆结石的报道。该数据还反映出高死亡率,特别是在儿童中。结论:高度血缘关系和对镰状细胞疾病的了解不足是科库族人中SCD基因频率高的主要原因。婚前筛查和遗传咨询应被视为降低其患病率的工具。

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