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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Molecular spectrum of α-thalassemia in the Iranian population of hormozgan: Three novel point mutation defects
American Journal of Hematology, Volume 74, No. 2, Year 2003
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Description
We describe the molecular spectrum of α-thalassemia mutations in a population sample of newborns in the South-Iranian province of Hormozgan. Out of 660 randomly collected blood samples 218 (33%) had visibly elevated Hb Bart's. DNA was extracted from 78 samples out of this selection (n = 156), of which 114 alleles were found to carry an α-thalassemia defect. Besides the common -α3.7 (79.1%), -α4.2 (1.7%), and α-5nt α alleles (4.3%), three novel nondeletional α-thalassemia mutations were found; the α2 cd19 (-G) frameshift mutation (12.2%), the α1 IVS1-148(A→G) (0.9%) affecting the splice acceptor site consensus sequence and the cd14 (TGG→TAG) (0.9%), which creates a premature stop codon in the first exon of the α1-gene. A fourth mutation in the α 1-gene, the IVS1-38 (C→T) (0.9%) of undetermined effect, was found in an individual heterozygous for the α2 cd19(-G) mutation. © 2003 Wiley-Liss, Inc.
Authors & Co-Authors
Harteveld, Cornelis Leonard
Netherlands, Leiden
Leids Universitair Medisch Centrum
Yavarian, Majid
Unknown Affiliation
Zoraï, Amine
Tunisia, Tunis
Institut Pasteur de Tunis
Quakkelaar, E. D.
Netherlands, Leiden
Leids Universitair Medisch Centrum
Van Delft, Peter
Netherlands, Leiden
Leids Universitair Medisch Centrum
Giordano, Piero Carlo
Netherlands, Leiden
Leids Universitair Medisch Centrum
Statistics
Citations: 6
Authors: 6
Affiliations: 2
Identifiers
Doi:
10.1002/ajh.10385
ISSN:
03618609
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health
Study Design
Cross Sectional Study