Revista Médica del Uruguay
Print version ISSN 0303-3295
DA LUZ, Julio Abayubá et al. Asociación de hemoglobina S (HbS) y beta talasemia en dos pacientes del Centro Hemato-Oncológico del Hospital Pereira Rossell. Rev. Méd. Urug. [online]. 2006, vol.22, n.4, pp. 311-316. ISSN 0303-3295.
Summary 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.
Keywords : hemoglobinopatías; BETATALASEMIA; URUGUAY.