Double heterozygosity for the common mutation at codon 39 (C>T) (β0) and the Sicilian (δβ0) 13.4 kb deletion, causes transfusiondependent beta-thalassemia in two Costa Rican patients
DOI:
https://doi.org/10.51481/amc.v64i3.1243Keywords:
Beta Thalassemia, Delta-Beta Thalassemia, sicilian deletion, anemia, compound heterozygousAbstract
Thalassemia are autosomal recessive disorders of hemoglobin chains with variable clinical expression depending on the type of mutation or deletion present. We present the common codon 39(C>T) (β0) in combination with the δβ0 13.4 kb Sicilian deletion in two non-related young women from Costa Rica. We report the characterization of the compound heterozygous not previously described phenotype, and discuss the significance of this genotype combination with a transfusion dependent β0 defect Thalassemia.
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