地中海贫血
杂合子优势
复合杂合度
中国家庭
医学
儿科
遗传学
内科学
生物
突变
等位基因
基因
作者
Hai-Shen Tang,Degang Wang,Lv‐Yin Huang,Dong‐Zhi Li
出处
期刊:Hemoglobin
[Taylor & Francis]
日期:2018-03-04
卷期号:42 (2): 135-137
被引量:3
标识
DOI:10.1080/03630269.2018.1463916
摘要
A Chinese family with δ-thalassemia (δ-thal) was found, in which the daughter is homozygous for δ-thal (HBD: c.-127T>C) with complete deficiency of Hb A2 and the mother is a heterozygote with low level of Hb A2. The father, however, is a heterozygote with a normal Hb A2 value due to coinheritance of a β-thalassemia (β-thal). Although no abnormal clinical or hematological findings were noted in the individuals with δ-thal, one should keep in mind that β-thal can be missed during routine preliminary screening when β-thal and δ-thal coexist in a subject.
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