Frequency of sickle cell genotype among the Yorubas in Lagos: implications for the level of awareness and genetic counse
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ORIGINAL ARTICLE
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 Idowu A. Taiwo & Olufemi A. Oloyede & Ade O. Dosumu
Received: 15 September 2010 / Accepted: 19 December 2010 / Published online: 27 January 2011 # Springer-Verlag 2011
Abstract 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
I. A. Taiwo : O. A. Oloyede (*) Department of Cell Biology and Genetics, Faculty of Science, University of Lagos, Lagos, Nigeria e-mail: [email protected] O. A. Oloyede Department of Obstetrics and Gynaecology, Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria A. O. Dosumu Department of Haematology, Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria
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. Keywords Sickle cell genotype . Awareness . Counselling . Yoruba . Nigeria
Introduction Sickle cell anaemia is a serious genetic disease caused by mutation of β-globin gene located on the short arm of human chromosome 11 (Ashley-Koch et al. 2000). The first description of the haemoglobinopathy now known as sickle cell anaemia was by Herrick (1910) when he reported his observation of sickle-shaped erythrocytes in the peripheral blood of a severely anaemic patient. Hahn and Gillespie (1927) later observed that oxygen inhibited the sickling of erythrocytes in this disease entity and that the defect appeared to reside in the haemoglobin molecule rather than red cell membrane. The genetic and the molecular basis of this disorder together with its clinical importance have been well established; sickle cell anaemia results from a substitution mutation at the sixth base position of the β-globin gene leading to replacement of glutamic acid, a polar amino ac
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