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Acta Médica Costarricense

versão On-line ISSN 0001-6002versão impressa ISSN 0001-6012


PROTTI-MELENDEZ, Tania; CALDERON-BRENES, Melissa; SOLANO-VARGAS, Mariela  e  CARTIN-SANCHEZ, Wálter. 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. Acta méd. costarric [online]. 2022, vol.64, n.3, pp.50-55. ISSN 0001-6002.

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.

Palavras-chave : Beta (β) thalassemia; delta-beta (δβ) thalassemia; sicilian deletion; anemia; compound heterozygous.

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