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.
Yang
Yu
Y
Department of Obstetrics and Gynecology, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, China.
Li
Dong-Zhi
DZ
D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D006801:Humans; D015151:Immunoblotting / Q000379:methods*; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D055542:alpha-Globins