国际生殖健康/计划生育杂志

国际生殖健康/计划生育杂志 ›› 2025, Vol. 44 ›› Issue (3): 204-206.doi: 10.12280/gjszjk.20240603

• 病例报告 • 上一篇    下一篇

一例δ地中海贫血的遗传学分析

庄倩梅(), 刘春强, 颜梅珍, 王耿   

  1. 362000 泉州市妇幼保健院·儿童医院产前诊断中心
  • 收稿日期:2024-12-17 出版日期:2025-05-15 发布日期:2025-06-04
  • 通讯作者: 庄倩梅，E-mail：759839220@qq.com
  • 基金资助:
    泉州市医疗卫生领域指导性科技计划项目(2022N037S)

Genetic Analysis of A Case of δ Thalassemia

ZHUANG Qian-mei(), LIU Chun-qiang, YAN Mei-zhen, WANG Geng   

  1. Prenatal Diagnosis Center, Quanzhou Women′s and Children′s Hospital, Quanzhou 362000, Fujian Province, China
  • Received:2024-12-17 Published:2025-05-15 Online:2025-06-04
  • Contact: ZHUANG Qian-mei, E-mail: 759839220@qq.com

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摘要：

报告1例于泉州市妇幼保健院遗传咨询门诊就诊的罕见的δ地中海贫血基因突变病例。患者血常规结果均显示平均红细胞体积（mean corpuscular volume，MCV）、平均红细胞血红蛋白（mean corpuscular hemoglobin，MCH）下降，血红蛋白（hemoglobin，Hb）正常。血红蛋白电泳结果显示患者的血红蛋白A2（hemoglobin A2，HbA2）明显下降。常见的α和β地中海贫血基因检测结果提示为--SEA/αα。因HbA2明显下降，经δ珠蛋白（hemoglobin subunit delta，HBD）基因测序分析疑似δ地中海贫血基因携带者，故进一步采用Sanger测序法分析HBD突变类型，DNA测序发现患者携带Codon98(-GTG;+A)杂合突变突变基因，国际命名法HBDc.295_297delGTGinsA。该病例HbA2含量较低是由于HBD突变导致的。HBDc.295_297delGTGinsA突变在中国人群中属于罕见型。

关键词: δ珠蛋白类, 基因, 突变, 血红蛋白A2, 病例报告

Abstract:

A rare case of delta-thalassemia gene mutation was reported. Blood routine examination showed that both mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were decreased, and that hemoglobin (Hb) was in critical value. Hemoglobin electrophoresis showed that hemoglobin A2 (HbA2) was decreased significantly. The common alpha and beta thalassemia gene test suggested --SEA/αα. Due to the significant decrease of HbA2, the suspected carriers of hemoglobin subunit delta (HBD) gene were analyzed. Therefore, the HBD mutation types were further analyzed by Sanger sequencing. DNA sequencing revealed that the patient carried Codon98(-GTG;+A) heterozygous mutant gene, the international nomenclature as HBDc.295_297delGTGinsA. The low level of HbA2 in this case was due to the mutation of HBD. HBDc.295_297delGTGinsA is a rare type of gene mutations in the Chinese population.

Key words: delta-Globins, Genes, Mutation, Hemoglobin A2, Case reports