Beta-thalassemia in Mediterranean countries. Findings and outlook

Gil Bellis,Alain Parant

doi:10.14198/ingeo.19079

Abstract

Beta-thalassemia is one of the most common genetic disorders among humans. It occurs in many world regions, but the highest levels are recorded in the Mediterranean countries. This study reviews the epidemiology of β-thalassemia in these countries, as well as their resources for fighting the disease, and establishes an outlook on the trends in the pathology between now and 2050. The epidemiological parameters are based on information from specialised databases, while the outlook is derived from the global population forecasts of the United Nations. With an incidence rate at birth of 15.9 cases per 100,000 newborns, the Northern coast of the Mediterranean is the least impacted and has significant health infrastructures; the number of newborns concerned could decrease by 2050. The incidence rate on the Eastern Mediterranean coast, where numerous prevention programmes are available, is twice as high, at 31.4 per 100,000 newborns; over the next 30 years, the number of new cases at birth could increase. The incidence rate on the Southern Mediterranean coast is highest, at 36.8 per 100,000 newborns, and the region continues to suffer from a shortage of health infrastructures; the number of new cases at birth could increase considerably in the region between now and 2050. These long-term projections are based on population growth in the Mediterranean countries and will be changed only by the widespread use of antenatal practices against β-thalassemia. The findings of this study could enable the countries concerned to adapt their healthcare policies.

Highlights

Thalassemias are genetic diseases characterized by a deficit in the production of hemoglobin, the protein contained in red blood cells that transports oxygen in the bloodstream
Addressing the multiple aspects of β-thalassemia and the health and socio-economic difficulties involved for the countries concerned, this study focuses on one of the most affected geographical regions, the countries on the Mediterranean coast
For the entire geographic region under review, prevalence is distributed according to a gradient (Figure 1), where the proportion of carriers is 3.0% on the European coast (the highest being in Albania (5.0%), Italy (6.0%) and Greece (8.1%)), 3.2% on the Asian coast (the highest rates being in Syria (5.0%), Israel (6.0%) and Cyprus), and 3.6% on the African coast

Summary

Introduction

Thalassemias are genetic diseases characterized by a deficit in the production of hemoglobin, the protein contained in red blood cells that transports oxygen in the bloodstream. Β-thalassemia is one of the most common genetic disorders among humans. It mainly occurs in the Mediterranean countries but is found in the Middle East, West Africa, India, and South-East Asia. The total number of individuals with β-thalassemia is unknown. This lack of knowledge can be attributed to the existence in some countries merely of patient registers and, above all, to early mortality occurring before the disease is diagnosed among children with the most severe cases, the number of children born with β-thalassemia every year having been estimated at 60,000 worldwide (Angastiniotis and Lobitz, 2019)

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