ABSTRACT
Background: Haemoglobinopathies are among the most common genetic disorders worldwide; inherited as autosomal recessive disorders from healthy-carrier parents. The most common are the sickle cell disorders and the thalassaemias; occurring in people of African; Asian; South European and Middle Eastern descent. The University of Uyo Teaching hospital (UUTH); Uyo; Akwa Ibom state; Nigeria is a tertiary health institution providing the health needs of the host and neighbouring states in South-south and South East Nigeria. There is currently paucity of data on the haemoglobin genotype distribution in Akwa Ibom state; hence the need for this study; considering its importance in medical diagnosis; patient management; genetic information and counselling. Methods: This is a retrospective study. Registers and results of all haemoglobin genotype investigations carried out in the department of Haematology; University of Uyo Teaching Hospital; Uyo between January; 2003 and December; 2007 were extracted; reviewed and analyzed using simple percentages. Results: Eight thousand and ninety seven Haemoglobin genotype tests carried out over a five year period were analysed: 6376 (78.7) of these were HbAA; 1580 (19.6) HbAS; 121 (1.5) HbSS; while HbAC and SC accounted for 16 (0.2) and (0.04) respectively. The ratios of Hb AA to Hb AS; HbAAto HbSS andHbAAtoHbAC were 4:1; 52:1 and 400:1 respectively. Of the 8097 subjects; 6723(83.0) were females; 1152(14.2) were males. Among the females; 4.8of HbSS and HbSc were in children under 15 years while only 0.3were in those 15 - 44 years. Conclusion: While HbAA is the predominant genotype in our environment; there is also a significant number of the abnormal haemoglobin genes. Withmany children with sickle cell disease now surviving to adulthood due to advances in medicine; a larger number of women with sickle cell disease in pregnancy with all the attendant challenges it poses should be expected in our environment. It is necessary therefore; to keep abreast with developments in the area of its management in order to cope with the challenges