Molecular Analysis of Beta-Globin Gene Mutations in Sickle Cell Disease Patients at Ahmadu Bello University Teaching Hospital, Zaria

Sickle cell disease (SCD) results from a point mutation in the beta-globin gene that causes abnormal hemoglobin polymerization under deoxygenated conditions. Nigeria bears the highest global burden of sickle cell disease, making local molecular data essential for genetic counseling and clinical management programs. This study analyzed beta-globin gene mutations in SCD patients attending the hematology clinic at Ahmadu Bello University Teaching Hospital (ABUTH), Zaria, Kaduna State, Northwest Nigeria. Blood samples were collected from 100 genotype-confirmed (HbSS, HbSC, HbSbeta-thal) patients and 30 HbAA controls. Genomic DNA was extracted using a salting-out method, and allele-specific PCR was performed to confirm the HbS mutation (c.20A>T). Concomitant alpha-thalassemia deletions (-3.7 kb) were assessed by gap-PCR. The HbS mutation was confirmed in all SCD patients. Alpha-thalassemia trait was co-inherited in 28% of HbSS patients, consistent with previous reports suggesting a modifying effect on disease severity in Nigerian populations. Genetic counseling uptake among family members of diagnosed patients was below 30%, highlighting significant gaps in awareness. These findings support the expansion of affordable molecular diagnostic platforms in Northwestern tertiary hospitals. Keywords: sickle cell disease, beta-globin, HbS mutation, alpha-thalassemia, Zaria.