Nondeletional hemoglobin (Hb) H disease is caused by a deletion of both α-globin genes on one chromosome 16 and of an α+-thalassemia point mutation on the other chromosome 16. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, and are often transfused. Counseling and prenatal diagnosis ought to be offered to couples at risk of nondeletional Hb H disease. In this study, we report on the prenatal diagnoses of 2 cases of uncommon nondeletional Hb H disease using the PCR-reverse dot-blot method.

Keywords:
α-Thalassemia, Nondeletional hemoglobin H disease, Prenatal diagnosis, Reverse dot-blot method
© 2010 S. Karger AG, Basel
2010
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