Hematological and genotypic features of 100 patients with hemoglobin E disorders from Yunnan Province

Jiqing Yang; Huawei Wang; Zunyue Zhang; Yuan Qian; Lan Zhang; Ling LU; Kunhua Wang

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Hematological and genotypic features of 100 patients with hemoglobin E disorders from Yunnan Province

VernacularTitle: 云南省100例异常血红蛋白E患者的血液学和基因型分析
Author: Jiqing YANG ^{1
,

2} ; Huawei WANG ^{3
,

4} ; Zunyue ZHANG ³ ; Yuan QIAN ¹ ; Lan ZHANG ¹ ; Ling LU ³ ; Kunhua WANG ³
Author Information

1. Department of Clinical Laboratory, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
2. Medical School, Kunming University of Science and Technology, Kunming Yunnan 650500, China
3. Research and Experiment Center, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
4. Department of Reproduction and Genetics, the First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
Publication Type:Clinical Trail
Keywords: Hemoglobin E; Hematology; Genotype; Yunnan Province
From: Chinese Journal of Medical Genetics 2020;37(1):33-36
CountryChina
Language:Chinese
Abstract: Objective:To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province.
Methods:One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis.
Results:All patients were found to harbor a mutation to the 26th codon of the β-globin chain (HBB: c. 79G>A). Ninety patients were heterozygotes, and 10 co-inherited c. 79G>A and an α-thalassemia mutation (7 αα/-α^3.7, 2 αα/--^SEA and 1 -α^3.7/-α^3.7). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α-thalassemia mutation.
Conclusion:Hb E can be effectively detected by HPLC. The type of α-thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.