ملخص
We report the presence of two different δ-globin gene mutations causing δ+-thalassemia in association with homozygous (-α3.7/-α3.7) 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 δ-globin genes: HbA2-Yialousa (HBD: c.82G>C) and HbA2-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.
اللغة الأصلية | English |
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الصفحات (من إلى) | 240-242 |
عدد الصفحات | 3 |
دورية | International Journal of Hematology |
مستوى الصوت | 98 |
رقم الإصدار | 2 |
المعرِّفات الرقمية للأشياء | |
حالة النشر | Published - أغسطس 2013 |
ASJC Scopus subject areas
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