A rare δ-globin gene: c.349 C>G variant in Guangdong Province
10.3760/cma.j.cn231583-20220827-00297
- VernacularTitle:广东省罕见δ-珠蛋白基因：c.349 C>G突变1例分析
- Author:
Bin TANG
1
;
Jicheng WANG
;
Keyi CHEN
;
Huiying CHAI
;
Mingyong LUO
;
Jie LI
;
Wenli ZHAN
;
Lihua LIANG
;
Hao GUO
Author Information
1. 广东省妇幼保健院医学遗传中心，广州 511400
- Keywords:
δ-thalassemia;
Rare type;
Hemoglobin A 2
- From:
Chinese Journal of Endemiology
2023;42(10):823-826
- CountryChina
- Language:Chinese
-
Abstract:
Objective:A rare case of δ-globin gene (HBD) mutation in Guangdong Province was analyzed to provide reference for avoiding misdiagnosis of δ-thalassemia in clinic.Methods:The patient was admitted to Guangdong Maternal and Child Health Hospital, and the peripheral blood sample was collected for hematological phenotypes [mean erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH), hemoglobin (Hb)] and Hb typing analysis. The routine deletion and mutation of α-thalassemia and β-thalassemia genes were analyzed by PCR-flow fluorescence hybridization. At the same time, DNA sequencing was used to analyze the type of HBD mutation.Results:The results of hematological phenotypes analysis showed that MCV was 87.9 fl, MCH was 29.3 pg, and Hb content was 140 g/L. The results of Hb typing showed that the contents of Hb F, Hb A 2, Hb A 2 variant, and Hb A were 0.4%, 1.3%, 0.6%, and 97.7%, respectively. No abnormality was found in α-thalassemia and β-thalassemia genes by routine deletion and mutation detection. According to DNA sequencing analysis, the patient had HBD: c.349 C>G variant. Conclusion:The low Hb A 2 content (reference value is 2.5% - 3.5%) in this case is due to the mutation of HBD, HBD: c.349 C>G variant is rare in Chinese population.
