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A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease.

Authors :
Guan, Zhi-Yang
Zhong, Ze-Yan
Xu, Zhi-Bang
Chen, Jian-Hong
Liu, Yan-Hui
Source :
Hemoglobin; Nov2022, Vol. 46 Issue 6, p338-340, 3p
Publication Year :
2022

Abstract

Despite the fact that most hemoglobin (Hb) variants are clinically and hematologically silent, they can interact with thalassemias, which could sometimes give rise to complicated routine thalassemia diagnostics. Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] alone is a benign condition, but its coinheritance with α-thalassemia (α-thal) may lead to misdiagnosis. We describe the case of a Chinese woman with an elevated Hb A<subscript>2</subscript> level who was assumed to carry heterozygous β-thalassemia (β-thal), but was later shown to be a double heterozygote for Hb G-Siriraj and Hb H disease. This study for the first time described hematological characteristics of a patient with a double heterozygosity for Hb G-Siriraj and Hb H disease. It is of great significance for technicians and clinicians to expand their knowledge as well as to help guide clinical diagnosis, population screening and genetic counseling. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03630269
Volume :
46
Issue :
6
Database :
Complementary Index
Journal :
Hemoglobin
Publication Type :
Academic Journal
Accession number :
162355075
Full Text :
https://doi.org/10.1080/03630269.2022.2158098