Asociación de hemoglobina S (HbS) y beta talasemia en dos pacientes del Centro Hemato-Oncológico del Hospital Pereira Rossell

Julio Abayubá da Luz; María Delia Góngora; Elza Miyuki Kimura; María Fátima Sonati; Fernando Ferreira Costa; Mónica Sans

Authors

Julio Abayubá da Luz Universidad de la República, Facultad de Medicina, Departamento de Genética, Asistente
María Delia Góngora Hospital Pereira Rossell, Centro Hemato-Oncológico Pediátrico, Médico Laboratorista
Elza Miyuki Kimura Universidad Estadual de Campinas, Facultad de Ciencias Médicas. Departamento de Patología Clínica, Jefa del Laboratorio de Hemoglobinas
María Fátima Sonati Universidad Estadual de Campinas, Facultad de Ciencias Médicas, Departamento de Patología Clínica, Profesora
Fernando Ferreira Costa Universidad Estadual de Campinas, Facultad de Ciencias Médicas, Hemocentro, Profesor Titular
Mónica Sans Universidad de la República, Facultad de Humanidades y Ciencias de la Educación, Departamento de Antropología Biológica, Directora y Profesora Agregada

Keywords:

HEMOGLOBINOPATHIES, BETATALASEMIA, URUGUAY

Abstract

Association between allele bS that produces hemoglobin S and allele (btal) is mainly seen in African and Mediterranean populations, it causes the HbS-beta-thalassemia syndrome. This syndrome shows a wide range of clinical and genetic forms due mostly to the thalassemic allele. Carriers of thalassemic allele b0 generally follow a similar clinical course to homocygote for talasémico bS of the HbS. On the other hand, carriers of b+ allele follow a variable clinical course, depending on the reduction of beta-globin chain. This study describe two clinical cases of patients with HbS-beta thalassemia of the Hematologic and Oncologic Centre of the Pereira Rossell Hospital.
Genotypes of patients were analysed using automatic sequences of beta globin gen. Thalassemia allele b+ IVS-1-110 G®A was seen in one patient and allele b0 codon39 C®T in the other, so that both are compound heterozygous bS/btal.
Clinical and paraclinical data is compared with molecular diagnostic findings; the importance of the molecular diagnosis in Uruguayan population is also discussed.

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