Characterization of a novel α-thalassemia deletion (Dongxing deletion; --DX) by CNV-seq in a Chinese female with Hb H disease: a case report.

Abstract excerpt

OBJECTIVE: This study was initiated to resolve a discrepancy between conventional genetic findings and clinical presentation in a proband with α-thalassemia. The initial genotype (-α4.2/-α4.2) was inconsistent with the Hb H disease phenotype, suggesting the presence of an undetected pathogenic variant. METHODS: To characterize the underlying genetic defect, we employed a multi-technique approach. The proband's...

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