<abstract xmlns="http://www.w3.org/1999/xhtml"> Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the "defective gene" in the population, favoring the appearance of new cases of Cooley's anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world's population is bearing β-thalassemia, over 400,000 children with β thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years. <bold>Material and methods: </bold>We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001-2010), out of which we analyzed the family tree of 10 cases throughout 3-4 generations, starting from the cases of children diagnosed with β-thalassemia. <bold>Results: </bold>The number of heterozygous subjects that emerged over 3-4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley's anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/ grandmothers) along 3-4 generations (over a period of 70-80 years) the number of new β-thalassemia cases was 5.4 times higher. <bold>Conclusions: </bold>According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population. </abstract>

Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of β-thalassemia consists in the fact that it maintains the "defective gene" in the population, favoring the appearance of new cases of Cooley's anaemia, the severe form of β-thalassemic syndromes. Current data estimate that 7% of the world's population is bearing β-thalassemia, over 400,000 children with β thalassemia being born annually, therefore the WHO estimates the doubling of this figure in the coming years. Material and methods: We carried out a retrospective clinical study of over 450 cases diagnosed with β-thalassemia in the Dolj, Constanța and Vâlcea counties, along a period of 10 years (2001-2010), out of which we analyzed the family tree of 10 cases throughout 3-4 generations, starting from the cases of children diagnosed with β-thalassemia. Results: The number of heterozygous subjects that emerged over 3-4 generations was of 60 cases with β-thalassemia and 9 cases with Cooley's anaemia. Thus, starting from the 10 cases of β-thalassemic married subjects (great grandfathers/great grandmothers, grandfathers/ grandmothers) along 3-4 generations (over a period of 70-80 years) the number of new β-thalassemia cases was 5.4 times higher. Conclusions: According to our results, the last generation of the studied children and adolescents shows the presence of a total of 18 subjects with β-thalassemia, suggesting the increasing amount of heterozygotes in the population.

Heterozygous Beta-Thalassemia, A Genetic Haemolytic Anaemia In Continuous Expansion

Family medicine physician, University of Medicine and Pharmacy, Craiova, Romania

Department of Pediatrics, County Emergency Hospital Râmnicu Vâlcea, University of Medicine and Pharmacy, Craiova, Romania

Department of Pediatrics, University of Medicine and Pharmacy, Constanța, Romania

University of Medicine and Pharmacy, Craiova, Romania

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Introduction: Heterozygous β-thalassemia represents the mild form of the β-thalassemic syndromes, being compatible with normal lifetime. The importance of...

Heterozygous Beta-Thalassemia, A Genetic Haemolytic Anaemia In Continuous Expansion

Publié en ligne: 05 sept. 2013

Pages: 154 - 157

DOI: https://doi.org/10.2478/amma-2013-0036

© 2013

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.