ABSTRACT
CONTEXT: Sickle Cell Anaemia (SCA) is a genetic disorder with a life-long disability, which is of public health importance. The diversity in its clinico-pathologic and laboratory presentations may be due to the interplay between additional genetic differences and environmental factors. The genetic factors may be within the ß-globin gene itself, the ß-globin gene cluster or elsewhere in the genome. AIM: To characterize the ß-globin gene for variations associated with the Sickle Cell mutation. SETTINGS AND DESIGN: A cross-sectional descriptive study involving 51 adult SCA patients attending Sickle Cell Clinic of Haematology Department Ahmadu Bello University (ABUTH) Zaria, Kaduna State, Nigeria. METHODS AND MATERIAL: The buccal swab specimens were collected and ß-globin gene DNA sequencing was done. The sequences obtained were compared with a Genbank Reference ß-globin gene (NC_000011.9) using Basic Local Alignment Search Tool (BLAST), and variations noted. Data generated were analyzed using SPSS Version 20.0. STATISTICAL ANALYSIS USED: Data generated was summarized by using charts, means±2SD, and 95% confidence intervals. RESULTS: There were 40 (78.43%) females and 11 (21.57%) males. The mean age of the participants was 25.35 ± 7.67 years, 95% CI (23.20, 27.51). The classic sickle cell mutation A T was present in all participants. The mean number of ß-Globin gene variations was 8.61±11.30, 95% CI (5.43, 11.78). The number of Substitutions were 122 (27.79%), insertions 184 (41.91%), and deletions 133 (30.30%). These occurred in various combinations. The mean number of substitutions, insertions, and deletions were 2.39±3.23, 3.61±7.66, and 2.60±2.46 with 95% CIs of (1.48, 3.30), (1.45, 5.76), and (1.92, 3.30) respectively. CONCLUSIONS: There are ß-globin gene variations in SCA patients in Zaria, and locally relevant genetic database of the SCA population will be the cornerstone in understanding genotype-phenotype interactions in this disorder.