Abstract

BRAVO-URQUIOLA, Martha et al. Phenotyping and genotyping studies in a family with the compound heterozygosity δβ thalassemia/β^IVSII-849 thalassemia. Invest. clín [online]. 2006, vol.47, n.2, pp.179-184. ISSN 0535-5133.

The propositus is a two year old child with a severe hemolytic anemia and increased level of Hb F. The Hbs A, A₂ and F were eluted and quantitated by cation exchange high-performance liquid chromatography (HPLC-CE). DNA was isolated from peripheral blood leukocytes by a salting-out extraction procedure. The β globin gene was amplified and the presence of the β thalassemia mutation was determined by PCR followed of Reverse Dot Blot. Her hematological parameters were as follows: Hb: 7.0 g/dL, Hct: 24.8%, VCM: 87.4 fl, CHCM: 27.8 fl. The haemoglobin study showed an 97% increase of Hb F and Hb A₂ normal. The molecular study suggested the presence of β^IVSII-849 mutation in trans to δβ Thalassemia. The propositus inherited her mother’s δβ-thalassemia gene mutation and her father’s β^IVSII-849 mutation. This is the first time the diagnosis has been performed in a Venezuelan family at-risk of compound heterozygotes for β-thalassemia and delta β-thalassemia

Keywords : thalassemia mayor; thalassemia.

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