PMID- 31607315
OWN - NLM
STAT- MEDLINE
DCOM- 20191114
LR  - 20200108
IS  - 1009-2137 (Print)
IS  - 1009-2137 (Linking)
VI  - 27
IP  - 5
DP  - 2019 Oct
TI  - [Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes].
PG  - 1580-1584
LID - 10.19746/j.cnki.issn.1009-2137.2019.05.033 [doi]
AB  - 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 
      alpha 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 alpha thalassemia mutation. 
      CONCLUSION: The clinical phenotype of HbE homozygote shows highly heterogeneous, 
      which is relates with age, sex and co-inheriting alpha-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 alpha- 
      thalassemia.
FAU - Pan, Yun-Hua
AU  - Pan YH
AD  - Department of Laboratorial Examination, People's Hospital of Dehong Dai and 
      Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
FAU - Guo, Wei-Xia
AU  - Guo WX
AD  - Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of 
      Medical Sciences & Peking Union Medical College, Kunming 650118，Yunnan Province, 
      China.
FAU - Luo, Sai-Li
AU  - Luo SL
AD  - Department of Laboratorial Examination, People's Hospital of Dehong Dai and 
      Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
FAU - Tan, Xian-Rong
AU  - Tan XR
AD  - Department of Laboratorial Examination, People's Hospital of Dehong Dai and 
      Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
FAU - Ge, Shi-Jun
AU  - Ge SJ
AD  - Department of Laboratorial Examination, People's Hospital of Dehong Dai and 
      Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
FAU - Yang, Bi-Qing
AU  - Yang BQ
AD  - Department of Laboratorial Examination, People's Hospital of Dehong Dai and 
      Jingpo Autonomous Prefecture, Mangshi 678400, Yunnan Province, China.
FAU - Yang, Zhao-Qing
AU  - Yang ZQ
AD  - 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.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhongguo Shi Yan Xue Ye Xue Za Zhi
JT  - Zhongguo shi yan xue ye xue za zhi
JID - 101084424
RN  - 9034-61-1 (Hemoglobin E)
SB  - IM
MH  - Child
MH  - China
MH  - Female
MH  - Genotype
MH  - Hemoglobin E/*genetics
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Phenotype
MH  - alpha-Thalassemia
EDAT- 2019/10/15 06:00
MHDA- 2019/11/15 06:00
CRDT- 2019/10/15 06:00
PHST- 2019/10/15 06:00 [entrez]
PHST- 2019/10/15 06:00 [pubmed]
PHST- 2019/11/15 06:00 [medline]
AID - 1009-2137(2019)05-1580-05 [pii]
AID - 10.19746/j.cnki.issn.1009-2137.2019.05.033 [doi]
PST - ppublish
SO  - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Oct;27(5):1580-1584. doi: 
      10.19746/j.cnki.issn.1009-2137.2019.05.033.