Detection of uncommon deletions in alpha-thalassemia using the pcr-reverse dot-blot method for prenatal diagnosis of nondeletional hemoglobin H disease.

Nondeletional hemoglobin (Hb) H disease is caused by a deletion of both alpha-globin genes on one chromosome 16 and of an alpha(+)-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.