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Al Zadjali, Shoaib; Bashir, Wafa; Gravell, David; Al Riyami, Arwa Z.; Wali, Yasser; Daar, Shahina
International journal of hematology, 08/2013, Letnik: 98, Številka: 2Journal Article
We report the presence of two different δ-globin gene mutations causing δ + -thalassemia in association with homozygous (−α 3.7 /−α 3.7 ) genotype for the first time in an Omani child with a low hemoglobin A 2 (HbA 2 ) of 0.8 %. Direct nucleotide sequencing revealed compound heterozygote mutations in the patient’s δ-globin genes: HbA 2 -Yialousa (HBD: c.82G>C) and HbA 2 -Wrens (HBD: c.295G>A). In Oman, where α and β-thalassemia and HbS are prevalent, an awareness of the presence of different δ-globin gene mutations is important as complex interactions between these hemoglobinopathies can lead to the misdiagnosis of β-thalassemia carriers.
