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Frequency of sickle cell genotype among the Yorubas in Lagos: implications for the level of awareness and genetic counseling for sickle cell disease in Nigeria

机译:拉各斯Yorubas中镰状细胞基因型的频率:对尼日利亚镰状细胞疾病的认识和遗传咨询水平的影响

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摘要

The frequency of sickle cell genotype (HbSHbS) among the Yorubas living in Lagos, Nigeria, was determined. Seven hundred fifteen (715) subjects of different age groups took part in the study after filling consent forms and questionnaires. The haemoglobin genotype of each subject was determined by the usual electophoretic method from blood sample (3.0 ml) obtained from the antecubital vein. Normal and sickle cell haemoglobin genotypes were detected in subjects within the age group 1–50 years such that 366 (73.1%) had HbAHbA genotype, 123(24.5%) had HbAHbS, while 12 (2.4%) had HbSHbS giving genotypic frequencies that were not significantly different from Hardy–Weinberg expectations (P > 0.05). More than half (58.3%) of the subjects with the HbSHbS were in the 11–30 years age group. The results of this study showed that there is need for more awareness campaign and proper genetic counselling about sickle cell disease in Nigeria. This is particularly so for adolescents since they are likely to constitute the majority of intending couples and, therefore, those that will produce genes that will make up the gene pool for future generations. In situations where pregnancy had occurred before the actual marriage (as is sometimes the case), the importance of proper prenatal diagnosis and genetic counselling for sickle cell disorder cannot be overemphasized.
机译:确定了生活在尼日利亚拉各斯的Yorubas中镰状细胞基因型(HbSHbS)的频率。在填写同意书和调查表后,不同年龄组的一百七十五(715)名受试者参加了该研究。通过通常的电泳方法,从肘前静脉取血(3.0ml),确定每个受试者的血红蛋白基因型。在1至50岁年龄组中检测到正常和镰状细胞血红蛋白基因型,使得366(73.1%)为HbAHbA基因型,123(24.5%)为HbAHbS基因型,而12(2.4%)为HbSHbS基因型频率为与Hardy–Weinberg的预期没有显着差异(P> 0.05)。超过一半(58.3%)的HbSHbS受试者处于11至30岁年龄组。这项研究的结果表明,需要对尼日利亚的镰状细胞病开展更多的宣传运动和适当的遗传咨询。对于青少年来说尤其如此,因为它们很可能构成有意向的夫妇的大部分,因此,那些将产生构成后代基因库的基因的夫妇。在实际结婚之前就已经怀孕的情况下(有时是这样),不能过分强调正确的产前诊断和遗传咨询对镰状细胞疾病的重要性。

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