title: Identification of nondeletional α-thalassemia in a prenatal screening program by reverse dot-blot in southern China.
abstract: The aim of this study was to demonstrate the performance of nondeletional α-thalassemia (α-thal) prevention using a reverse dot-blot method at a Mainland Chinese hospital. A prenatal control program for nondeletional Hb H disease was performed between January 2009 and December 2013. All couples were screened for α-thal trait, and for couples in which one partner tested positive for α(0)-thal, the other was subjected to screening for Hb Constant Spring (Hb CS, HBA2: c.427T > C) and Hb Quong Sze (Hb QS, HBA2: c.377T > C) mutations by reverse dot-blot assay. Prenatal diagnoses were offered in at-risk pregnancies. During the study period, 51,105 couples were found to be carrying α-thal; among these, 35 (0.07%) couples were found to be at-risk of conceiving an offspring with nondeletional Hb H disease, including 25 couples for Hb H-CS and 10 cases for Hb H-QS. Nine fetuses were diagnosed with nondeletional Hb H disease, and eight of the affected pregnancies were terminated. Detection of nondeletional α-thal is necessary for any prenatal diagnosis (PND) programs in Southeast Asian countries. Reverse dot-blot is a relatively simple method for simultaneous typing of common nondeletional α-thal mutations.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Women & Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D002681:China / Q000453:epidemiology; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C045396:hemoglobin Quong Sze; C035541:Hemoglobin Constant Spring
keywords: Hb H disease; nondeletional mutations; prenatal diagnosis (PND); α-Thalassemia; α-thal