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Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.

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Perera, Shiromi, Allen, Angela, Silva, Ishari, Hapugoda, Menaka, Wickramarathne, M Nirmali, Wijesiriwardena, Indira, Allen, Stephen ORCID: https://orcid.org/0000-0001-6675-249X, Rees, David, Efremov, Dimitar G, Fisher, Christopher A, Weatherall, David J and Premawardhena, Anuja (2019) 'Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.'. Scientific Reports, Vol 9, Issue 1, e10116.

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Abstract

β thalassaemia intermedia (βTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to manage as no definitive treatment guidelines exist unlike for β thalassaemia major (βTM). There are only a few studies looking at genotype phenotype associations of βTI outside the Mediterranean region. The reasons for the diverse clinical phenotype in βTI are unknown. We categorized fifty Sri Lankan patients diagnosed with βTI as mild, moderate or severe according to published criteria. DNA samples were genotyped for β thalassaemia mutations, α globin genotype and copy number and known genetic modifiers of haemoglobin F production. There were 26/50 (52.0%) in mild group and 12/50 (24.0%) each in moderate and sever categories. 18/26 (69.2%) classified as mild were β heterozygotes and 17/18 (94.4%) had excess α globin genes. 11/12 (91.6%) classified as moderate were β heterozygotes and 8/11 (72.2%) had excess α globin genes. In contrast, 8/12 (66.7%) classified as severe were β homozygotes and 7/8(87.5%) had α globin gene deletions. In Sri Lanka, co-inheritance of either excess α globin genes in β thalassaemia heterozygotes or α globin gene deletions in β thalassaemia homozygotes is a significant factor in modulating disease severity.

Item Type: Article
Subjects: QU Biochemistry > Genetics > QU 500 Genetic phenomena
WA Public Health > WA 20.5 Research (General)
WH Hemic and Lymphatic Systems > Hematologic Diseases. Immunologic Factors. Blood Banks > WH 170 Hemolytic anemia (e.g., Sickle cell anemia)
WH Hemic and Lymphatic Systems > Hematologic Diseases. Immunologic Factors. Blood Banks > WH 190 Hemoglobin and other hemeproteins. Porphyrins (Associated with hemoglobin)
Faculty: Department: Clinical Sciences & International Health > Clinical Sciences Department
Digital Object Identifer (DOI): https://doi.org/10.1038/s41598-019-46674-y
Depositing User: Stacy Murtagh
Date Deposited: 17 Jul 2019 11:15
Last Modified: 12 Sep 2019 13:28
URI: https://archive.lstmed.ac.uk/id/eprint/11228

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