Hemoglobin H disease combining hemoglobin Q-thailand and hemoglobin E disease:a clinical and laboratory genealogical research
- VernacularTitle:罕见的血红蛋白H病同时合并异常血红蛋白Q和E家系分析
- Author:
He-Ping CHEN
;
Wei-Dong ZHENG
;
Dong CHEN
;
Yan-Fen GE
;
Shu-Ying CHEN
;
Zhi-Xin HUANG
;
Rui-Xing YE
;
Ka-Bin RONG
;
- Publication Type:Journal Article
- Keywords:
Hemoglobins,abnormal;
Hemoglobin H;
alpha-Thalassemia
- From:
Chinese Journal of Laboratory Medicine
2001;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate clinically and in laboratory a genealogical tree with hemoglobin H disease Combining Hemoglobin Q-Thailand and Hemoglobin E Disease.Methods Genealogical laboratory studies were carried out with the following methods:hemoglobin electrophoresis, various biochemical determinations,and DNA analysis.Results Father's genotype of ?-THAL:??/?~Q ?~(4.2); genotype of ?-THAL:?E/N;phenotype:minor ?-THAL carrier combining Hb Q and Hb E multiple heterozygote;mother' s genotype of ct-THAL:--~(SEA)/??;genotype of ?-THAL:?n/?n.According to comprehensive analysis,mother's phenotype:minor ?-THAL,complex minor ?-THAL carrier combining Hb F ? Initial sign of ?-THAL genotype:--~(SEA)/?~Q ?~(4.2);phenotype:deletion type Hb H genotype disease;?- THAL genotype:?E/?E;phenotype:? E homozygote.According to comprehensive analysis:deletion type Hb H combining HbE multiple heterozygote.Youger brother's ?-THAL genotype:--~(SEA)/?~Q ?~(4.2);?-THAL genotype:?n/?n;phenotype:deletion type Hb H disease.Both mother and her youngest son have G6PD deficiency.Conclusions Guangdong Province is an area with high morbidity of ?-THAL and ?-THAL,Hb E and Hb Q as well as G6PD deficiency.There may be some correlation between Hb E and Fib Q in term's of the high morbidity of regional Hb,but the two types of Hb combining Hb H disease are rare in China and the world in point of nonhomologous chromosome.Attention should be paid to the problems of double heterozygote of ?-THAL complex ?-THAL,and THAL complex G6PD deficiency.Data from the study have enriched the scientific information of molecular genetics of erythroeyte thalassemia and of molecular pathology with important significance in genetics guidance and clinical treatment for patients.
