biostudies-literatureUnknown60(1)Abdul Hamid FS<h4>Purpose</h4>Thalassemia is a major public health concern in Southeast Asia, particularly in Malaysia, where a high carrier rate places significant pressure on healthcare systems. Hereditary Persistence of Fetal Hemoglobin (HPFH) and delta-beta (δβ) thalassemia are genetic conditions associated with elevated levels of fetal hemoglobin (Hb F). This study aimed to determine the frequency of common beta (β)-globin gene cluster deletions among Malaysian carriers of HPFH or δβ thalassemia, while also providing an overview of the thalassemia burden in the region.<h4>Methods</h4>A retrospective study was conducted on 534 blood samples submitted to the Institute for Medical Research (IMR), Malaysia, for β-thalassemia genotyping between January 2017 and December 2019. Demographic data, includingBlood research51https://www.ebi.ac.uk/biostudies/studies/S-EPMC12480163biostudies-literatureMolecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.PMC12480163Abdul Hamid FSMohd Bahari SKMohd Sahid ENMat Yusoff YMohd Yasin NEsa EMd Noor SLai MIfalseMolecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.<h4>Purpose</h4>Thalassemia is a major public health concern in Southeast Asia, particularly in Malaysia, where a high carrier rate places significant pressure on healthcare systems. Hereditary Persistence of Fetal Hemoglobin (HPFH) and delta-beta (δβ) thalassemia are genetic conditions associated with elevated levels of fetal hemoglobin (Hb F). This study aimed to determine the frequency of common beta (β)-globin gene cluster deletions among Malaysian carriers of HPFH or δβ thalassemia, while also providing an overview of the thalassemia burden in the region.<h4>Methods</h4>A retrospective study was conducted on 534 blood samples submitted to the Institute for Medical Research (IMR), Malaysia, for β-thalassemia genotyping between January 2017 and December 2019. Demographic data, including2025-01-01T00:00:00Z2025 Sep2026-06-03T23:15:32.454Z2026-05-02T03:11:45.791ZS-EPMC124801634102356110.1007/s44313-025-00100-7