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β‐Thalassaemia intermedia in Lebanon

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Abstract: Approximately one third of thalassaemia patients onrecord in Lebanon have thalassaemia intermedia. We haveanalysed three factors in a panel of 73 patients with this less severeform of the disease in our population: mild β‐globin gene mutations, deletions in the α‐globin gene and the presence of a polymorphismfor the enzyme XmnI in the Gγ‐promoter region. The results show that the most important contributing factor is the β‐genotype:68% of patients have a mild β+ mutation (IVSI‐6, cd29,−88 or −87), while 26% of patients are positive for the XmnI polymorphism associated with increased production ofHbF, which showed strong linkage to particular mutations(IVSII‐1, cd8 and cd30). However, the genotype–phenotypecorrelation is difficult, because many patients were initially misdiagnosed as thalassaemia major and were started early on regular blood transfusions, which was stopped later on. This illustrates well the importance of an early accurate diagnosis of thalassaemia intermedia for appropriate clinical management.
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Keywords: Lebanon; molecular basis; thalassaemia intermedia

Document Type: Research Article

Affiliations: 1: Department of Biology, American University of Beirut, Lebanon, 2: Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon, 3: Chronic Care Center, Hazmieh, Lebanon, 4: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK, and 5: Department of Laboratory Medicine and Pathology, American University of Beirut Medical Center, Beirut, Lebanon

Publication date: April 1, 2000

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