δ-Thalassemia with Complete Absence of Hb A 2 in a Chinese Family.

HEMOGLOBIN(2018)

引用 3|浏览1
暂无评分
摘要
A Chinese family with -thalassemia (-thal) was found, in which the daughter is homozygous for -thal (HBD: c.-127T>C) with complete deficiency of Hb A(2) and the mother is a heterozygote with low level of Hb A(2). The father, however, is a heterozygote with a normal Hb A(2) value due to coinheritance of a -thalassemia (-thal). Although no abnormal clinical or hematological findings were noted in the individuals with -thal, one should keep in mind that -thal can be missed during routine preliminary screening when -thal and -thal coexist in a subject.
更多
查看译文
关键词
delta-Thalassemia (-thal),-thalassemia (-thal),HBD gene,mutation detection
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要