Hematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, Kuala Lumpur, Malaysia
Syahzuwan Hassan currently works at the Institute for Medical Research, Ministry of Health Malaysia. Their most recent publication is 'Transfusion Dependent Homozygous α-Thalassemia in Patients Associated with Hypospadias in Three Survivors'.
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»