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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Li J,Li R,Li DZdoi
10.3109/03630269.2014.985832subject
Has Abstractpub_date
2015-01-01 00:00:00pages
42-5issue
1eissn
0363-0269issn
1532-432Xjournal_volume
39pub_type
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