Unexpected Genotype in a Non-Transfusion Dependent Thalassemia Family

Cristina Curcio, Valentina Giannone, Elena Benzoni, Claudia Cesaretti, Elena Cassinerio, Manuela Seia, Giovanna Graziadei


Non-transfusion dependent thalassemia (NTDT) is an inherited hemoglobin disorder characterized by an ?/non-? globin chain imbalance of variable severity, resulting in a wide spectrum of clinical manifestations. The coinheritance of additional ? genes with a beta-thalassemia heterozygous mutation has a well-known negative effect. Triplication or quadruplication alone are mostly found by chance, but the coinheritance with ? mutations can worsen the very mild anemia to a more severe hematological and clinical phenotype causing NTDT, depending on the severity of beta mutations. We describe a case of a 38-year-old ?-thalassemia trait, pregnant woman at 33 weeks of gestation with supernumerary ?-globin genes and two ?-globin defects.

J Med Cases. 2020;11(4):90-93
doi: https://doi.org/10.14740/jmc3335


Non-transfusion dependent thalassemia; Supernumerary alpha-globin genes; alpha and beta-globin defects coinheritance; Genetic counselling

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