from Section 4 - Maternal Medicine
Published online by Cambridge University Press: 20 November 2021
Haemoglobinopathies constitute a heterogeneous group of autosomal recessive inherited disorders, affecting either haemoglobin synthesis (i.e. thalassaemia) or structure (i.e. sickle cell disease) [1], and they represent the most common single-gene disorder in humans [2]. According to the World Health Organization (WHO), about 5% of the world’s population are carriers of a potentially pathological haemoglobin gene. Annually, about 300 000 infants are born all around the world with a dominant haemoglobinopathy, with 30% of them suffering from thalassaemia syndromes and the remaining 70% from sickle cell anaemia [3]. Sickle cell disease appears to be more prevalent in Africa, α-thalassaemia in South East Asia and β-thalassaemia in the Mediterranean, Middle East and Asia. This geographic allocation is due to the fact that individuals carrying one pathological and one normal gene (heterozygous carriers trait) were protected from malaria, and these regions had the highest prevalence of this fatal disease.
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