ANALYSIS OF delta-GLOBIN GENE MUTATIONS IN THE CHINESE POPULATION

作者：Liu, Na; Xie, Xing-Mei; Zhou, Jian-Ying; Li, Ru; Liao, Can; Li, Dong-Zhi^*

来源：Hemoglobin, 2013, 37(1): 85-93.

DOI：10.3109/03630269.2012.747965

• delta-Thalassemia (delta-thal)
• delta-Globin gene variant
• Mutation detection
• HBD gene

Although delta-globin gene (HBD MIM#142000) mutations have no immediate physical consequence, it can interfere with the diagnosis of beta-thalassemia (beta-thal), which can be severe. In the present study, of 40,863 samples referred for thalassemia trait screening, 167 samples with lower than expected Hb A(2) levels, in the presence or absence of a second Hb A(2) fraction, were selected for our analysis and 152 samples (0.4%) were positive for delta-globin gene mutations. Twenty-one different mutations were detected, and of these 12 have not been previously described. We found that -77 (T>C) was the most common mutation in Chinese followed by -30 (T>C), together accounting for almost 82.3% of the total number of delta-globin gene defects. Since compound heterozygotes for beta-thal and a delta-globin gene mutation may have low mean cell volume (MCV) and normal Hb A(2) levels, and therefore be overlooked as beta-thal heterozygotes, a detailed molecular analysis for both alpha- and beta-thal is necessary, especially when one partner has been identified to have beta-thal trait.

• 出版日期2013
• 单位广州医科大学; 广州市妇女儿童医疗中心