Novel and Mediterranean β thalassemia mutations in the indigenous Northern Ireland population

• Published in: Blood cells, molecules, & diseases molecules, & diseases, 2006-03, Vol.36 (2), p.265-268
• Main Authors: Knott, M., Ramadan, K.M.A., Savage, G., Jones, F.G.C., El-Agnaf, M., McMullin, M.F., Percy, M.J.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; beta-Thalassemia - genetics; Child; DNA Mutational Analysis; Female; Frameshift Mutation; Globins - genetics; Haplotypes; Humans; Male; Middle Aged; Mutation; Northern Ireland; Point Mutation; Population Groups; β +IVS-I-110 (G → A); β 039 (C → T); β 0IVS-II-850 (G → A); β thalassemia; β thalassemia trait
• ISSN: 1079-9796; 1096-0961
• DOI: 10.1016/j.bcmd.2005.12.005

β thalassemia is one of the most common genetic diseases worldwide resulting from aberrant β-globin chain production. It is highly prevalent in regions with endemic malaria, but it is also present at low frequency in the indigenous populations of non-tropical areas such as Britain. Screening β thalassemia trait individuals from Northern Ireland has detected 2 Mediterranean mutations, 39 (C → T) and IVS-I-110 (G → A); the previously reported IVS-II-850 (G → A) mutation originally described in individuals of Scottish/English ancestry; and 2 novel mutations, initiation codon A → C and 109 delG. Haplotype analysis indicates that the Mediterranean mutations are present on previously described haplotypes, suggesting that they have arisen due to migration. It remains to be established whether the novel mutations have arisen de novo in Northern Ireland.