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

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.