Hb H disease associated with compound heterozygosity for --SEA deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family

Hb H disease associated with compound heterozygosity for --SEA deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family

Objectives: In clinical practice, the majority of α-thalassaemia cases arise from deletions of the α-globin genes. However, a subset of cases is attributed to rare haemoglobin variants, which can manifest with borderline or normal screening results, potentially leading to missed diagnoses in clinica...

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Bibliographic Details
Main Authors: Manna Sun, Jiwu Lou, Wang Xinghe, Ying Zhao, Yunshi Dai, Shuangai Liu, Tizhen Yan
Format: Article
Language:English
Published: Taylor & Francis Group 2024-12-01
Series:Hematology
Subjects:
α-thalassaemia
unstable haemoglobin
mutation
haemo-globin interactions
distal histidine
hemoglobin variant
Online Access:https://www.tandfonline.com/doi/10.1080/16078454.2024.2339559
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https://www.tandfonline.com/doi/10.1080/16078454.2024.2339559

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