ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.

doi:10.1111/ijlh.70037

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ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.

International journal of laboratory hematology - 1 Apr 2026

Yasin Norafiza Mohd, Somasundram Suguna, Hassan Syahzuwan, Aziz Nur Aisyah, Hamid Faidatul Syazlin Abdul, Zulkefli Ezzanie Suffya, Mohamad Nor Nazuha, Lee Chin Ming, Darawi Mohd Nazif, Papasavva Thessalia, Stephanou Coralea, Kountouris Petros, Arkesteijn Sandra J G, Koopman Tamara, Harteveld Cornelis L

Abstract excerpt

BACKGROUND: Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field. This study reports the haematological and molecular characteristics of a novel α2-globin variant identified in a...

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PMID: 41493435
DOI: 10.1111/ijlh.70037
PMCID: PMC12956499

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