罕见β-地中海贫血CD5(-CT)21例分析

刘莉莉; 葛毅媛; 赖柏如; 杨立业

doi:10.16190/j.cnki.45-1211/r.2024.12.010

罕见β-地中海贫血CD5(-CT)21例分析

Analysis of 21 cases of rare β-thalassemia CD5(-CT)

摘要

摘要:
目的分析罕见β-地中海贫血（简称β-地贫）CD5（-CT）（HBB: c.17_18delCT）携带者的基因型和血液学特征。
方法采用基因测序方法检测罕见β-地贫基因型，并对其血液学数据进行回顾性分析。
结果 DNA测序检出21例罕见β-地贫基因CD5（-CT）携带者，其中女10例，男11例，36 d~38岁，主要居住在中国西南地区（云南和贵州）；14例有血常规结果，平均红细胞体积（MCV）为（66.16±6.57）fL，MCH为（20.30±1.67）pg；11例有血红蛋白（Hb）电泳结果，平均HbA₂为（5.30±0.40）%。单纯β-地贫基因CD5（-CT）携带者有19例，另外两例CD5（-CT）携带者分别合并α2珠蛋白基因IVS Ⅱ-55 T＞G（HBA2: c.300+55T＞G）变异和新发α1珠蛋白基因CD83 CTG＞GTG（HBA1: c.250C＞G）突变。
结论罕见β-地贫血基因CD5（-CT）的分布具有区域性，且血液学特征符合β⁰地贫表型。

Abstract:
Objective To analyze the genotypes and hematological characteristics of individuals carrying the rare β-thalassemia CD5(-CT) (HBB: c.17_18delCT).
Methods Gene sequencing was employed to detect the rare β-thalassemia genotypes, followed by a retrospective analysis of their hematological data.
Results A total of 21 individuals were identified as carriers of the rare β-thalassemia gene CD5(-CT) through DNA sequencing. Among them, there were 10 females and 11 males, ranging in age from 36 days to 38 years, primarily residing in the southwestern region of China (Yunnan and Guizhou). Among these 21 cases, 14 cases had blood routine results. The average mean corpuscular volume (MCV) was (66.16±6.57) fL and the average mean corpuscular hemoglobin (MCH) was (20.30±1.67) pg. For 11 cases with hemoglobin (Hb) electrophoresis results, the average HbA₂ was (5.30±0.40)%. Furthermore, there were 19 simple carriers of β-thalassemia gene CD5(-CT), and two other CD5(-CT) carriers were combined with α2 globin gene IVS Ⅱ-55 T > G (HBA2: c.300+55T > G) variation and a new α1 globin gene CD83 CTG > GTG (HBA1: c.250C > G) variation, respectively.
Conclusion The distribution of rare β -thalassemia gene CD5(-CT) exhibits regional specificity and hematological characteristics consistent with a β⁰-thalassemia phenotype.

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