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Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population.

Blood cells, molecules & diseases - 1 Jan 2000

Knott M, Ramadan K M A, Savage G, Jones F G C, El-Agnaf M, McMullin M F, Percy M J

Abstract excerpt

beta thalassemia is one of the most common genetic diseases worldwide resulting from aberrant beta-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 beta thalassemia trait individuals from Northern Ireland has detected 2 Mediterranean mutations, 39 (C --> T) and...

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PMID: 16466947
DOI: 10.1016/j.bcmd.2005.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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