| Literature DB >> 23797957 |
Shoaib Al Zadjali1, Wafa Bashir, David Gravell, Arwa Z Al Riyami, Yasser Wali, Shahina Daar.
Abstract
We report the presence of two different dglobin gene mutations causing d?-thalassemia in association with homozygous (-a3.7/-a3.7) genotype for the first time in an Omani child with a low hemoglobin A2 (HbA2) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient’s d-globin genes: HbA2-Yialousa (HBD: c.82G[C) and HbA2- Wrens (HBD: c.295G[A). In Oman, where a and b-thalassemia and HbS are prevalent, an awareness of the presence of different d-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of b-thalassemia carriers.Entities:
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Year: 2013 PMID: 23797957 DOI: 10.1007/s12185-013-1388-7
Source DB: PubMed Journal: Int J Hematol ISSN: 0925-5710 Impact factor: 2.490