A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease. (2nd November 2022)

• Record Type: Journal Article
• Authors: Guan, Zhi-Yang; Zhong, Ze-Yan; Xu, Zhi-Bang; Chen, Jian-Hong; Liu, Yan-Hui
• Is Part Of: Hemoglobin. Volume 46:Number 6(2022)
• Page Start: 338
• Page End: 340
• Publication Date: 2022-11-02
• Subjects: Capillary electrophoresis (CE) -- Hb G-Siriraj -- Hb H disease -- interaction -- misdiagnosis; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2158098
• Languages: English
• ISSNs: 0363-0269

Abstract

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 A2 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.