Perera, Shiromi, Allen, Angela, Silva, Ishari, Hapugoda, Menaka, Wickramarathne, M Nirmali, Wijesiriwardenas, Indira, Allen, Stephen 
ORCID: 0000-0001-6675-249X, Rees, David, Efremov, Dimitar G, Fisher, Christopher A et al (show 2 more authors)
(2019)
Genotype-phenotype association analysis identifies the role of a globin genes in modulating disease severity of beta thalassaemia intermedia in Sri Lanka.
SCIENTIFIC REPORTS, 9 (1).
10116-.
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 |
|---|---|
| Uncontrolled Keywords: | Humans, beta-Thalassemia, Blood Transfusion, Genotype, Heterozygote, Homozygote, Mutation, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Sri Lanka, Female, Male, alpha-Globins, Young Adult, Genetic Association Studies |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Faculty Management Office |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 22 Dec 2022 17:00 |
| Last Modified: | 22 Dec 2022 17:00 |
| DOI: | 10.1038/s41598-019-46674-y |
| Open Access URL: | http://dx.doi.org/10.1038/s41598-019-46674-y |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3166768 |
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