异常血红蛋白病实验室检测研究新进展

叶丽花

doi:10.13201/j.issn.1004-2806.2023.02.015

异常血红蛋白病实验室检测研究新进展

叶丽花^1, ,

- 来宾市妇幼保健院(广西来宾，546100)
基金项目:
广西来宾市科技计划项目资助(No：来科转211829)

详细信息

通讯作者: 叶丽花，E-mail：181988895@qq.com

中图分类号: R457.1

收稿日期: 2022-09-01

修回日期: 2022-10-17

刊出日期: 2023-02-01

New progress in laboratory detection of abnormal hemoglobinopathy

YE Lihua^1, ,

- Laibin Maternity and Children Healthcare Hospital, Laibin, 546100, China

More Information

Corresponding author: YE Lihua, E-mail: 181988895@qq.com

Received Date: 01 September 2022

Revised Date: 17 October 2022

Publish Date: 01 February 2023

摘要

摘要: 异常血红蛋白(Hb)病是由于珠蛋白基因缺陷、珠蛋白一级结构发生变化而产生新的分子结构改变的Hb变异体引起的一组遗传性疾病，与地中海贫血统称为Hb病，是世界上最常见的出生缺陷之一，全球发病率位于第3位，是中国南方地区最常见的遗传性疾病之一。相较于地中海贫血，大多数异常Hb病在临床上无临床症状，发病率较低，使得对该病的认识度不够广泛，因此目前还没有成熟独立的筛查诊断程序，异常Hb病往往是伴随地中海贫血筛查被发现，再通过基因测序检测才能明确诊断。
- 异常血红蛋白病 /
- Hb电泳 /
- 基因测序法
Abstract: Abnormal hemoglobin(Hb) disease is a group of hereditary diseases caused by Hb variants that produce new molecular structural changes due to globin defects and changes in the primary structure of globin. Together with thalassemia, it is collectively known as Hb disease, that is one of the most common birth defects in the world, with the global incidence ranking third, is one of the most common genetic disease in southern China. Compared with Mediterranean anemia, most unusual Hb diseases are clinically asymptomatic, with low incidence and no enough wide understanding of the disease degree, so there is no mature independent screening diagnosis program. Abnormal Hb disease is often detected during thalassaemia screening and then confirmed by genetic sequencing.
- abnormal Hb disease /
- Hb electrophoresis /
- gene sequencing method

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