Balgir R S
Division of Human Genetics, Regional Medical Research Centre, Indian Council of Medical Research, Opposite Kalinga Hospital, Chandrasekharpur, Bhubaneswar, 751 023, Orissa, India,
J Community Genet. 2010 Sep;1(3):117-23. doi: 10.1007/s12687-010-0016-y. Epub 2010 Sep 1.
Tribal communities constitute about 8.2% of the total population of India. Their health needs are even larger than elsewhere in India; this study investigates the genetic diversity in relation to hemoglobinopathies, G6PD deficiency and, ABO and Rhesus (D) blood groups in two sects, i.e. Dudh (converted Christian) and Dhelki (Hinduised) Kharia, a primitive tribe in Sundargarh district of Orissa in Central-Eastern India. A randomized screening of 767 Kharia tribals (377 males and 390 females) belonging to all age groups and both sexes was done. Laboratory analysis was carried out following the standard methodology and techniques. Contrasting differences were observed in the frequency of hematological genetic disorders such as β-thalassemia, sickle cell, hemoglobin E, G6PD deficiency, ABO and Rhesus (D) blood groups between the two subgroups. Dudh Kharia had no hemoglobin variant allele other than the high prevalence of β-thalassemia trait (8.1%), whereas, their counterpart Dhelki Kharia had the high prevalence of sickle cell allele (12.4%), hemoglobin E allele (3.2%), and β-thalassemia allele (4.0%). Frequency distribution of hemoglobin variants between Dudh and Dhelki Kharia tribe was statistically highly significant (p < 0.001). High G6PD deficiency was detected 19.2% and 30.7% in Dudh Kharia and Dhelki Kharia, respectively (p < 0.001), the average being 24.4% in Kharia tribe. Kharia tribes show a trend for replacement of sickle cell gene with G6PD-deficiency gene as the clinical manifestations of G6PD deficiency are mild (do not result in a complete loss of enzyme activity) against the sickle cell disease with high morbidity and mortality. Rhesus (D)-negative blood group was 1.1% in Dudh Kharia and absent in Dhelki Kharia (p < 0.05). This study showed genetic isolation of the two sects of Kharia tribe. Antimalarial drugs administration needs to be done with caution. Hematological disorders pose a major health challenge having multifaceted implications in public health genetics.
部落社区约占印度总人口的8.2%。他们的健康需求甚至比印度其他地区更大；本研究调查了印度中东部奥里萨邦孙德尔加尔区的一个原始部落——杜德（改信基督教）和德尔基（印度教化）卡里亚两个教派中与血红蛋白病、葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症以及ABO和恒河猴（D）血型相关的遗传多样性。对767名来自各个年龄组和性别的卡里亚部落成员（377名男性和390名女性）进行了随机筛查。按照标准方法和技术进行实验室分析。在两个亚组之间，观察到血液学遗传疾病（如β地中海贫血、镰状细胞病、血红蛋白E、G6PD缺乏症、ABO和恒河猴（D）血型）的频率存在显著差异。杜德卡里亚除了β地中海贫血特征的高患病率（8.1%）外，没有其他血红蛋白变异等位基因，而其对应的德尔基卡里亚则有镰状细胞等位基因（12.4%）、血红蛋白E等位基因（3.2%）和β地中海贫血等位基因（4.0%）的高患病率。杜德和德尔基卡里亚部落之间血红蛋白变异体的频率分布在统计学上具有高度显著性（p < 0.001）。杜德卡里亚和德尔基卡里亚中G6PD缺乏症的检出率分别为19.2%和30.7%（p < 0.001），卡里亚部落的平均检出率为24.4%。卡里亚部落呈现出用G6PD缺乏症基因替代镰状细胞基因的趋势，因为G6PD缺乏症的临床表现较轻（不会导致酶活性完全丧失），而镰状细胞病的发病率和死亡率较高。杜德卡里亚中恒河猴（D）阴性血型为1.1%，德尔基卡里亚中不存在（p < 0.05）。本研究表明卡里亚部落的两个教派存在遗传隔离。抗疟药物的使用需要谨慎。血液学疾病对公共卫生遗传学具有多方面的影响，构成了一项重大的健康挑战。
