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

Abstract:

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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Publication status:
Published

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Publisher copy:
10.3109/03630260903554803

Authors


Gallienne, AE More by this author
Iberson, NM More by this author
Dréau, HM More by this author
Jackson, H More by this author
Bignell, PA More by this author
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Journal:
Hemoglobin
Volume:
34
Issue:
1
Pages:
110-114
Publication date:
2010
DOI:
EISSN:
1532-432X
ISSN:
0363-0269
URN:
uuid:24847a84-c454-4374-a56f-eb261f2e15e9
Source identifiers:
164017
Local pid:
pubs:164017

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