Journal of Blood Disorders & Transfusion

Department of Pathology, Queen Elizabeth Hospital, 13A, Jalan Penampang, Kota Kinabalu, Sabah, Malaysia

Publications

• 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»
  

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