Characterization of a novel deletion causing beta-thalassemia major in an Afghan family.

Journal article

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 of the beta-globin gene indicating a possible deletion. Gap-polymerase chain react...

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Authors: Gallienne, A; Iberson, N; Dréau, H; Jackson, H; Bignell, P

• Publication status: Published
• Journal: Hemoglobin
• Volume: 34
• Issue: 1
• Pages: 110-114
• Publication date: 2010-01-01
• DOI: 10.3109/03630260903554803
• EISSN: 1532-432X
• ISSN: 0363-0269
• Language: English
• Keywords: beta-Globins; Female; beta-Thalassemia; Adult; Afghanistan; Male; Child; Gene Deletion; DNA Mutational Analysis; Genotype; Humans