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Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93‐2A > C) case of thalassaemia major
Author(s) -
AGARWAL S.,
TAMHANKAR P. M.,
KUMAR R.,
DALAL A.
Publication year - 2010
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2009.01157.x
Subject(s) - heterozygote advantage , compound heterozygosity , medicine , hemoglobinopathy , thalassemia , genetics , biology , hemolytic anemia , genotype , gene , mutation
Summary 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.