IVS-1 25bp deletion in the β-globin gene is rare entity in South East Asia region. We report the first case of β- thalassaemia major in a Malay girl from Malaysia with IVS-1 25bp deletion heterozygously compounded with IVS 1-5 (G>C) consensus mutation.
Citation: Hamid FSA, Ahmad R, Aziz NA, Omar SL, Arif SHHM, et al. (2015) β-Thalassaemia Major Malay Patient with Compound Heterozygosity for IVS 1-5 (G>C) Mutation and IVS-1 25bp Deletion: Case Report. J Blood Disorders Transf 6:260. doi: 10.4172/2155-9864.1000260