Article
Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.
Hemoglobin - 1 Jan 2010
Gallienne Alice E, Iberson Nicola M, Dréau Hélène M, Jackson Helen, Bignell Patricia A, Old John M, Schuh Anna, Henderson Shirley J
Abstract excerpt
We have identified and characterized a novel beta-globin gene deletion mutation in a family of Afghan ancestry. The proband was a 10-year-old transfusion-dependent female with the phenotype of beta-thalassemia major (beta-TM). DNA sequencing of the beta-globin gene showed no abnormalities. Multiplex ligation-dependent probe amplification (MLPA) showed reduced/absent probe height of the probe covering the 5' end...
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