EPIDEMIOLOGICAL DATA OF PATIENTS WITH HAEMOGLOBINOPATHIES TREATED IN UHC “MOTHER TEREZA” TIRANA DURING 1980 - 2014

Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule. Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include b-thalassemia major, intermediate and sickle cell disease. Hemoglobinopathies are most common in ethnic populations from Mediterranean basin, the Africa and Southeast Asia. The demographic data will provide information on age, sex, location and genetic aspect of haemoglobinopathies in Albania. For the period 1980 to 2014 epidemiological data were collected retrospectively for children with haemoglobinopathies. An estimated 7.1% of the global population in Albania is a carrier of an abnormal, or pathological, haemoglobin gene. The cases of children with haemoglobinopathies included in this study are mainly registered in Southern, South-west and Middle Albania, excluding the Northern area. The most evident pathology is Thalassemia Major (59%), followed by sicle cell disease (25%) and thalassemia sicle cell disease (16%). The highest average age was evidenced in intermediary thalassemia, whereas the male sex was the predominant one in our study. Through the molecular analyses our study gives a full panorama of the distribution of the mutations of the haemoglobinopathies. Hemoglobinopathies and their panorama in Albania are similar to the region. The application of the contemporary treatments, transfusions and iron chelation, have made a revolution in the improvement of the quality and expectancy of life of patients with hemoglobinopathies.