Affiliations 

  • 1 Department of Pathology, Faculty of Medicine, Universiti Sultan Zainal Abidin, Kuala Terengganu, Malaysia
  • 2 Paediatric Haematology, Oncology and Haemopoietic Stem Cell Transplant Unit, Hospital Kuala Lumpur (HKL) Jalan Pahang, Kuala Lumpur, Malaysia
  • 3 Department of Pathology, Hospital Kuala Lumpur (HKL) Jalan Pahang, Kuala Lumpur, Malaysia
  • 4 Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi Mara (UiTM), Bandar Puncak Alam, Malaysia
  • 5 Department of Paediatric, School of Medical Science, Health Campus, Univesiti Sains Malaysia (USM), Kelantan, Malaysia
  • 6 Department of Emergency, Rockingham Peel Group, South Metropolitan Health Service, Rockingham, Australia
  • 7 National Doping Control Centre, Mahidol University, Bangkok, Thailand
  • 8 Thalassaemia Research Centre, Institute of Molecular Biosciences, Mahidol University, Nakornpathom, Thailand
Hemoglobin, 2020 May;44(3):184-189.
PMID: 32586164 DOI: 10.1080/03630269.2020.1781652

Abstract

Effective prevention of β-thalassemia (β-thal) requires strategies to detect at-risk couples. This is the first study attempting to assess the prevalence of silent β-thal carriers in the Malaysian population. Hematological and clinical parameters were evaluated in healthy blood donors and patients with β-thal trait, Hb E (HBB: c.79G>A)/β-thal and β-thal major (β-TM). β-Globin gene sequencing was carried out for 52 healthy blood donors, 48 patients with Hb E/β-thal, 34 patients with β-TM and 38 patients with β-thal trait. The prevalence of silent β-thal carrier phenotypes found in 25.0% of healthy Malaysian blood donors indicates the need for clinician's awareness of this type in evaluating β-thal in Malaysia. Patients with β-TM present at a significantly younger age at initial diagnosis and require more blood transfusions compared to those with Hb E/β-thal. The time at which genomic DNA was extracted after blood collection, particularly from patients with β-TM and Hb E/β-thal, was found to be an important determinant of the quality of the results of the β-globin sequencing. Public education and communication campaigns are recommended as apparently healthy individuals have few or no symptoms and normal or borderline hematological parameters. β-Globin gene mutation characterization and screening for silent β-thal carriers in regions prevalent with β-thal are recommended to develop more effective genetic counseling and management of β-thal.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.