Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes.
10.19746/j.cnki.issn.1009-2137.2019.05.033
- Author:
Yun-Hua PAN
1
;
Wei-Xia GUO
2
;
Sai-Li LUO
1
;
Xian-Rong TAN
1
;
Shi-Jun GE
1
;
Bi-Qing YANG
1
;
Zhao-Qing YANG
3
Author Information
1. Department of Laboratorial Examination, People's Hospital of Dehong Dai and Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
2. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118，Yunnan Province, China.
3. Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118，Yunnan Province, China,E-mail: zyang@imbcams.com.cn.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Female;
Genotype;
Hemoglobin E;
genetics;
Homozygote;
Humans;
Male;
Phenotype;
alpha-Thalassemia
- From:
Journal of Experimental Hematology
2019;27(5):1580-1584
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the hematological characteristics of HbE homozygotes.
METHODS:Complete blood cells count and hemoglobin electrophoresis were used for phenotypic analysis of 78 cases with HbE homozygotes from Yunnan province, China. The PCR-fluorescence hybridization was used to detect the common gene mutation of thalassemia. The hematological indexes, including MCV, MCH, Hb, HbA2, HbF and HbE were statistically analyzed between groups with different sex, ages and compound α thalassemia status.
RESULTS:In HbE homozygotes (HbEE), 89.5% (17/19) children presented mild to moderate microcytic hypochromic anemia, and 10.5% of them presented moderate anemia. 39.6% (19/48) of women with HbEE developed mild anemia ,while 11 cases of male with HbE homozygotes were asymptomatic. The levels of MCV and MCH in HbE homozygotes increased by co-inheritance of α thalassemia mutation.
CONCLUSION:The clinical phenotype of HbE homozygote shows highly heterogeneous, which is relates with age, sex and co-inheriting α-globin genotypes. In Hb EE women and children are more likely to develop mild to moderate anemia. The microcytic hypochromic anemia degree is relieved when HbEE combined with α- thalassemia.
