Article
[Clinical phenotype genotype correlation in children with hemoglobin H disease in Zhuhai area of China].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2004
Zhou Yu-qiu, Xiao Qi-zhi, Huang Li-juan, Xiao Ge-fei, Li Wen-dian, Zhu Lan-fang, Chen Zi-xia, Zhang Yu-mei
Abstract excerpt
OBJECTIVE: Alpha-thalassemia is one of the most common monogene disorders in the world. Most frequently, it is caused by deletions of alpha-globin gene (-alpha or --), and less commonly resulted from the non-deletional mutation (alpha(T)alpha). Hemoglobin H (HbH) disease is the most severe type among survivors of alpha-thalassemia. The clinical presentation of children with the disease was highly heterogeneous....
Topics
- Child
- China
- Disease Progression
- Genotype
- Hemoglobin H
- Humans
- Phenotype
- alpha-Globins