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HBA2 Gene Conversion Disrupts Reverse Dot-Blot Hybridization Genotyping: A Prenatal Case of Non-Deletional α-Thalassemia Misdiagnosis.

Hemoglobin - 1 May 2026

Zhang Meiyu, Liu Xiaoli, Chen Lizhu, Yuan Dejian, Huang Jun, Wei Xiaobao, Huang Cheng, Zhong Qingyan

Abstract excerpt

This study reports a misdiagnosed case of non-deletional α-thalassemia caused by HBA2 gene conversion, whose inheritance pattern does not conform to the classical Mendelian inheritance model. Gap-polymerase chain reaction (Gap-PCR) combined with PCR-reverse dot-blot (PCR-RDB) revealed that the fetus was homozygous for HbQS, while the father was heterozygous for HbQS, and the mother was homozygous for HbCS and...

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Source

Identifiers

PMID: 41987528
DOI: 10.1080/03630269.2026.2653219

Genes

HBA2
HBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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