title: Variations in the β-globin genes of sickle cell anaemia patients in Zaria, Northwestern, Nigeria.
abstract: 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 β-globin gene itself, the β-globin gene cluster or elsewhere in the genome.
  
  
  
  To characterize the β-globin gene for variations associated with the Sickle Cell mutation.
  
  
  
  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.
  
  
  
  The buccal swab specimens were collected and β-globin gene DNA sequencing was done. The sequences obtained were compared with a Genbank Reference β-globin gene (NC_000011.9) using Basic Local Alignment Search Tool (BLAST), and variations noted. Data generated were analyzed using SPSS Version 20.0.
  
  
  
  Data generated was summarized by using charts, means±2SD, and 95% confidence intervals.
  
  
  
  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 β-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.
  
  
  
  There are β-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.
authors.affiliation: Department of Haematology and Blood Transfusion, Ahmadu Bello University, Teaching Hospital, Zaria, Nigeria.
authors.forename: S
authors.initials: S
authors.lastname: Awwalu
authors.affiliation: Department of Haematology and Blood Transfusion, Ahmadu Bello University, Teaching Hospital, Zaria, Nigeria.
authors.forename: A I
authors.initials: AI
authors.lastname: Mamman
authors.affiliation: Department of Haematology and Blood Transfusion, Ahmadu Bello University, Teaching Hospital, Zaria, Nigeria.
authors.forename: A
authors.initials: A
authors.lastname: Hassan
authors.affiliation: Department of Haematology and Blood Transfusion, Kaduna State University, Kaduna, Nigeria.
authors.forename: L G
authors.initials: LG
authors.lastname: Dogara
authors.affiliation: Department of Haematology and Blood Transfusion, Ahmadu Bello University, Teaching Hospital, Zaria, Nigeria.
authors.forename: A D
authors.initials: AD
authors.lastname: Waziri
authors.affiliation: Department of Haematology and Blood Transfusion, Ahmadu Bello University, Teaching Hospital, Zaria, Nigeria.
authors.forename: S M
authors.initials: SM
authors.lastname: Aminu
authors.affiliation: Department of Haematology and Blood Transfusion Usumanu, Danfodio University Teaching Hospital, Sokoto, Nigeria.
authors.forename: A U
authors.initials: AU
authors.lastname: Musa
authors.affiliation: Department of Haematology and Blood Transfusion, Kaduna State University, Kaduna, Nigeria.
authors.forename: H
authors.initials: H
authors.lastname: Bello-Manga
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D003430:Cross-Sectional Studies; D004247:DNA / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D009549:Nigeria / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D055544:beta-Globins / Q000235:genetics* / Q000378:metabolism
chemical_list: D015415:Biomarkers; D055544:beta-Globins; D004247:DNA