• 中国科学论文统计源期刊
  • 中国科技核心期刊
  • 美国化学文摘(CA)来源期刊
  • 日本科学技术振兴机构数据库(JST)

JOURNAL OF CLINICAL TRANSFUSION AND LABORATORY MEDICINE ›› 2019, Vol. 21 ›› Issue (5): 465-467.DOI: 10.3969/j.issn.1671-2587.2019.05.005

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Gene Identification and Analysis of Chinese Gγ+Aγδβ)0 -Thalassemia in Guangdong Area

HUANG Ge, LI Zhuo-hui, ZHENG You-wei, et al   

  1. Department of Clinical Laboratory,Guangdong Academy of Medical Sciences,Guangdong Provincial People's Hospital,Guangzhou 510080
  • Received:2018-09-25 Online:2019-10-20 Published:2019-10-29

Abstract: Objective To detect the genotype and analysis the clinical features of deletional Chinese Gγ+Aγδβ)0-thalassemia.Methods According to the data of hematology parameters,hemoglobin electrophoresis analysis and conventional α-thalassemia gene and β-thalassemia gene detection results,126 suspected ChineseGγ+Aγδβ)0-thalassemia carriers were found,and Gap PCR was used to detect the globin gene mutations. Result20 cases were identified to be heterozygote of deletional Chinese Gγ+Aγδβ)0-thalassemia. The value of HbF was 7.31%~19.31%, Hb was 94 g/L~141 g/L,MCV was 58 fL~77.6 fL,and MCH was 18.2 pg~25.7 pg . The other 2 cases were Chinese Gγ+Aγδβ)0-thalassemia accompanied by the common βthalassemia, hemoglobin analysis showed medium or severe anemia .Conclusion Among the high Hb F population,the proportion of Chinese Gγ+Aγδβ)0-thalassemia was not low,and the Chinese Gγ+Aγδβ)0-thalassemia heterozygotes showed normal or mild anemia,but when Chinese Gγ+Aγδβ)0-thalassemia combined with other common β-thalassemia,it showed medium or severe anaemia.

Key words: Chinese Gγ+Aγδβ)0-thalassemia, Gap-PCR, Clinical features

CLC Number: