Balgir R S
Division of Human Genetics, Regional Medical Research Centre (Indian Council of Medical Research), Opposite Kalinga Hospital, Chandrasekharpur, Bhubaneswar-751023, Orissa, India.
Ann Hum Biol. 2007 Jan-Feb;34(1):16-25. doi: 10.1080/03014460601054673.
Haemoglobinopathies, including sickle-cell disease and thalassaemia syndrome, are a group of blood diseases mostly confined to tropical and subtropical regions of the world. The spectrum of haemoglobin variants is a group of commonly encountered genetic conditions, with an average frequency of 19.32% in Orissa, varying from region to region and from community to community depending upon the type of mating practices.
For the first time, the infant mortality rate (IMR), i.e. the number of deaths under 1 year of age (in a given year) per thousand live births in a particular area, was studied to find the cause of the high IMR and to relate it to different genotypes of haemoglobinopathies.
IMR was found to be higher in couples with sickle-cell trait (75.9), beta-thalassaemia (184.2), and sickle cell/beta-thalassaemia (70.2) compared to normal couples (26.3). The reproductive wastage (abortions, stillbirths and neonatal deaths) and the number of deaths of offspring below 1 year of age (infant mortality) and below 10 years of age (childhood mortality) among affected couples in such families were also statistically significantly higher compared to normal parents.
The progeny of sickle-cell trait, beta-thalassaemia trait, and sickle cell/beta-thalassaemia couples contributes substantially to the high neonatal/IMR in the coastal state of Orissa in Central-Eastern India. This study has revealed that in comparison to normal couples, couples who were carriers of haemoglobinopathies had a greater reproductive wastage. Screening and genetic counselling could be an important factor in reducing IMR in rural India. The traits/carriers of haemoglobinopathies should, specifically, avoid marriages and mating for the better health of subsequent generations.
血红蛋白病，包括镰状细胞病和地中海贫血综合征，是一类主要局限于世界热带和亚热带地区的血液疾病。血红蛋白变异谱是一组常见的遗传疾病，在奥里萨邦的平均发生率为19.32%，因地区和社区而异，取决于交配方式的类型。
首次研究婴儿死亡率（IMR），即特定地区每千例活产中（某一年）1岁以下死亡人数，以找出高IMR的原因并将其与血红蛋白病的不同基因型相关联。
与正常夫妇（26.3）相比，镰状细胞性状夫妇（75.9）、β地中海贫血夫妇（184.2）和镰状细胞/β地中海贫血夫妇（70.2）的IMR更高。在这类家庭中，受影响夫妇的生殖损耗（流产、死产和新生儿死亡）以及1岁以下后代（婴儿死亡率）和10岁以下后代（儿童死亡率）的死亡人数与正常父母相比也有统计学上的显著差异。
镰状细胞性状、β地中海贫血性状和镰状细胞/β地中海贫血夫妇的后代对印度中东部沿海邦奥里萨邦的高新生儿/IMR有很大影响。这项研究表明，与正常夫妇相比，血红蛋白病携带者夫妇的生殖损耗更大。筛查和遗传咨询可能是降低印度农村地区IMR的一个重要因素。为了后代的健康，血红蛋白病的性状/携带者应特别避免结婚和交配。
