Hematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
Rahima Ahmad has done his MBBS in University of Malaya, MSc Medical Molecular, Genetics in University of Aberdeen, and currently working in Hematology Unit, Cancer Research Centre, Institute for Medical Research, Rahima Ahmad skills and expertise include Mutation, DNA Analysis, Cell biology, Amplification, DNA.
Research Article
Delta-Globin Gene Mutations Complicate the Diagnosis of β-Thalassemia
Author(s): Hassan S*, Ahmad R, Esa E, Yusoff YM, Sahid ENM, Aziz NA, Hamid FSA, Omar SL, Bidin MB, Hamid AH, Zakaria Z and Mokhri NM
Increased Hemoglobin A2 (HbA2) levels are used as invaluable markers for the detection of beta-thalassemia (β-thalassemia) carriers. However, a concomitant delta-globin gene (HBD) mutation reduces the HbA2 level resulting
in the confusion of the β-thalassemia status.
Objectives: We sought to identify HBD mutations leading to low HbA2 level β-thalassemia carriers receiving the
molecular diagnosis at the Institute for Medical Research (IMR), Malaysia.
Methods: Thirty-seven β-thalassemia carriers were ruled out of alpha-thalassemia (α-thalassemia) and underwent
HBD genotyping by Sanger sequencing.
Results: Twenty-two β-thalassemia carriers with HBD mutations were identified. The most common mutations
were HbA2-Indonesia and HbA2-Deventer. The HbA2-Deventer was found in et.. View more»