{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["60(1)"],"submitter":["Abdul Hamid FS"],"pubmed_abstract":["<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, including"],"journal":["Blood research"],"pagination":["51"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12480163"],"repository":["biostudies-literature"],"pubmed_title":["Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia."],"pmcid":["PMC12480163"],"pubmed_authors":["Abdul Hamid FS","Mohd Bahari SK","Mohd Sahid EN","Mat Yusoff Y","Mohd Yasin N","Esa E","Md Noor S","Lai MI"],"additional_accession":[]},"is_claimable":false,"name":"Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.","description":"<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, including","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-06-03T23:15:32.454Z","creation":"2026-05-02T03:11:45.791Z"},"accession":"S-EPMC12480163","cross_references":{"pubmed":["41023561"],"doi":["10.1007/s44313-025-00100-7"]}}