Evidence map›Paper›PMID 41765964›Full record

ArticleAnnals of hematology2026

A novel HBD gene mutation associated with normal-range hb A2 in β-thalassemia carriers.

Lei Zhang, Jingxin Yang, Xingping Li, Yang Liu, Chao Liu, Shan Duan, Lijun Zhang, Wenlan Liu, Ming Chang

Abstract read
PubMed Full text at PMC Publisher
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Article in Annals of hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Lei ZhangThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Jingxin YangThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Xingping LiThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Yang LiuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Chao LiuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Shan DuanInstitute of Maternal and Child Medicine, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Lijun ZhangThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China.
Wenlan LiuThe Center for Medical Genetics, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center, Southern Medical University, Shenzhen, Guangdong Province, China. wlliu@szu.edu.cn.
Ming ChangDepartment of Blood Transfusion, The Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, Guangdong Province, China. changm6@mail.sysu.edu.cn.

Funding

Guangdong Medical Science and Technology Research Fund B2025261Investigator-initiated research project conducted at Shenzhen Maternity and Child Healthcare Hospital 2024-KY-379Sanming Project of Medicine in Shenzhen SZSM202311005
6 · The paper itself

Abstract

β-thalassemia is one of the most common single-gene inherited conditions in the world, prevalence of β-thalassaemia in south China is 3–4%,increased Hb A2 level is one of the most important markers of β-thalassemia heterozygous carriers.Interaction of HBD gene defect with β-thalassemia can result in the normal Hb A2 β-thalassemia, potentially leading to a misdiagnosis of β- thalassemia carrier state. This study aimed to identify a novel mutation in HBD gene resulted in normal Hb A2 levels in β-thalassemia carriers, and explore the underlying mechanism of the novel HBD gene mutation using a minigene splicing assay and in vivo validation.

Indexed as

beta-Thalassemiadelta-GlobinsHemoglobin A2HeterozygoteMutationHumansdelta-GlobinsHemoglobin A2Hb A2HBD geneMutationΒ-thalassaemia

Identifiers

PMID41765964
PMCPMC12950643

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.