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

摘要

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 [beta 7(A4)Glu -> Lys; HBB: c.22G>A] alone is a benign condition, but its coinheritance with alpha-thalassemia (alpha-thal) may lead to misdiagnosis. We describe the case of a Chinese woman with an elevated Hb A(2) level who was assumed to carry heterozygous beta-thalassemia (beta-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.

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