Characterization of a novel α-thalassemia deletion (Dongxing deletion; -- DX ) by CNV-seq in a Chinese female with Hb H disease: a case report.
Youqiong Li, Ting Qin, Liang Liang et al.
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Case in brief
A Chinese female with α-thalassemia presented with a phenotype of Hb H disease, which was inconsistent with her initial genotype of -α 4.2/-α 4.2. Further genetic analysis using CNV-seq revealed a novel large deletion in the α-globin gene cluster, designated the Dongxing deletion (-- DX). The corrected genotype was -- DX/-α 4.2, and prenatal diagnosis confirmed the fetus had Hb H disease.
What made this case unusual
The case highlights a novel α-thalassemia deletion, the Dongxing deletion, which was not detectable by conventional methods but was characterized using CNV-seq.
Diagnostic / clinical pearl
This case emphasizes the need for comprehensive genetic analysis when there is a discrepancy between genotype and phenotype in α-thalassemia.
Why it matters
Understanding the limitations of conventional genotyping can improve diagnostic accuracy and management in patients with α-thalassemia.