Updated Worldwide Epidemiology of Inherited Erythrocyte Disorders

Timely diagnosis and effective treatment, based on epidemiologic data, consistently reduce the clinical, social and economic burden of inherited erythrocyte disorders.

This article provides an overview on current worldwide epidemiology of the most frequent inherited erythrocyte disorders.

Information was obtained from Global Health Data Exchange (GHDx) database.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency has the largest worldwide incidence and prevalence. Sickle cell disorders (SCD) cause the highest cause-specific disability-adjusted life years (DALYs). Incidence and prevalence of SCD have recently increased, whilst DALYs and mortality remained stable. All epidemiologic measures of thalassemias have recently declined, whilst those of G6PD deficiency remained stable or increased. Africa has the highest incidence of G6PD deficiency and SCD, whilst thalassemias are more frequent in Western Pacific. The incidence of all inherited erythrocyte disorders is increasing in Africa and Eastern Mediterranean, whilst is decreasing in South-East Asia, Western Pacific and Europe. Thalassemias and SCD display a peak of prevalence and mortality between 0 and 15 years, whilst mortality for G6PD deficiencies and other hemoglobinopathies peaks between 45 and 75 years and >80 years, respectively. Men have higher burden of G6PD deficiencies, whilst sex distribution of SCD and thalassemias is similar.

The worldwide epidemiologic burden of inherited erythrocyte disorders remains particularly high.