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Background: β-Thalassemia and Hemoglobin Constant Spring (Hb CS) are common hemoglobin disorders in China. Co-inheritance of β-thalassemia major and homozygous Hb CS is extremely rare.
Methods: An 8-month-old male infant with severe anemia and his parents were studied. Hematological parameters were assessed, and genomic DNA was analyzed using fluorescent melting curve analysis, with Sanger sequencing for confirmation.
Results: The parents were identified as β-thalassemia minor with decreased MCH and elevated Hb A2. The pro-band was found to have a homozygous α-genotype (HBA2: c.427T>C) and a compound heterozygous β-genotype (HBB: c.52A>T and c.124_127delTTCT), resulting in the phenotype αCS/αCS and β0/β0. The thalassemia gene variants in the proband were all inherited from the carrier parents, indicating co-segregation within the family.
Conclusions: This study reports a rare case of β-thalassemia major co-inherited with homozygous Hb CS. Genetic counseling and prenatal diagnosis are essential for managing severe hemoglobin disorders in families with thalassemia.
DOI: 10.7754/Clin.Lab.2025.250349
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