201. Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China
- Author
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Can Liao, Dong-Zhi Li, Xing-Mei Xie, and Jian Li
- Subjects
Male ,China ,Heterozygote ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatrics ,medicine.medical_specialty ,Hemoglobins, Abnormal ,Population ,Prevalence ,β thalassaemia ,medicine.disease_cause ,Asian People ,alpha-Thalassemia ,Pregnancy ,Prenatal Diagnosis ,hemic and lymphatic diseases ,Alpha-Globulins ,medicine ,Humans ,Genetic Predisposition to Disease ,Prospective Studies ,education ,Mean corpuscular volume ,Genetics ,education.field_of_study ,Mutation ,medicine.diagnostic_test ,business.industry ,Health Policy ,beta-Thalassemia ,Public Health, Environmental and Occupational Health ,Diagnostic marker ,Molecular analysis ,Prenatal screening ,Female ,business - Abstract
Objective To determine the prevalence of α-thalassaemia in β-thalassaemia individuals in a Chinese population. Methods The standard diagnostic marker for β-thalassaemia was elevation of the Hb A2 level (>3.5%) with low mean corpuscular volume. The common α-thalassaemia mutations were studied by molecular analysis in all identified β-thalassaemia carriers. Results A prevalence rate of 3.3% for β-thalassaemia was found in our population; α- and β-thalassaemia interactions were found to co-exist in 17.8% of the β-thalassaemia carriers. The -SEA deletion was the most common α-thalassaemia mutation co-inherited with β-thalassaemia, followed by the -α3.7 deletion, the -α4.2 deletion, Hb Quong Sze, and Hb Constant Spring. Conclusion Our results suggest that it could be valuable to study co-existing α-globin mutations in subjects with β-thalassaemia trait in a prenatal screening programme, especially in populations with a high prevalence of haemoglobinopathies.
- Published
- 2014
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