title: Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
abstract: An Indian Muslim boy was diagnosed with thalassaemia major at 3 months of age. His blood investigations revealed haemoglobin: 5.3 gm%, MCV: 68 fl, MCH 26.6 pg, MCHC: 39%, haemoglobin variant analysis: HbA(2): 2.8%, HbF: 20.3% and HbA: 75.2% (post-transfusion). His fathers' haemoglobin was 10.2 gm%, MCV: 68 fl, MCH: 23.9 pg, MCHC: 35% HbA(2): 4.7%, HbF: 0.7% and HbA: 85.2% and his mothers' haemoglobin was 10.9 gm%, MCV: 67.4 fl, MCH 22.6 pg, MCHC: 33.5%, HbA(2): 5.3%, HbF: 0% and HbA: 85.4%. The boy was found to be compound heterozygote for beta globin gene mutations (HBB:c.92 + 5G > C/HBB:c.93-2A > C). The mutation HBB:c.93-2A > C was inherited from his father. This report confirms the presence of HBB:c.93-2A > C in the Indian subcontinent and has important implications for screening and prenatal diagnosis of beta thalassaemia. This report also supports inclusion of this mutation in the beta globin gene mutation database.
authors.affiliation: Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. sarita@sgpgi.ac.in
authors.forename: S
authors.initials: S
authors.lastname: Agarwal
authors.forename: P M
authors.initials: PM
authors.lastname: Tamhankar
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.forename: A
authors.initials: A
authors.lastname: Dalal
mesh_terms: D001483:Base Sequence; D006579:Heterozygote; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics*
chemical_list: D055544:beta-Globins