From research to clinical practice: the example of hemoglobinopathies

Journal title RENDICONTI
Author/s Maria Domenica Cappellini
Publishing Year 2026 Issue 2025/2
Language Italian Pages 9 P. 201-209 File size 0 KB
DOI 10.3280/rndoa2025oa21165
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The hemoglobinopathies are hereditary red cell disorders due to an abnormal globin chain that leads to ineffective erythropoiesis and consequent anemia. According to the globin chain defect two main groups could be distinguished: i. hemoglobin variants (more than 400) that cause an abnormal function of the hemoglobin such as different O2 affinity, dehydration etc. Among these, the most clinically relevant is HbS (sickle cell anemia) very common in Africa and South-east Asia. ii. thalassemia forms due to a reduced or absent production of the affected globin, leading to different amounts of ineffective erythropoiesis and consequent anemia. The most severe forms of thalassemia (usually homozygous for severe beta globin mutations) are transfusion dependent, which means that patients should receive 2/3 units of red blood cells transfusions every 2/3 weeks along life. The hemoglobinopathies are prevalent in Africa, South-east Asia, middle east and Mediterranean basin however due to recent migration they are spread all over the word. During the last decade gene therapy and novel pharmacological therapies have been developed for the cure of such disorders.

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Maria Domenica Cappellini, Dalla ricerca alla clinica: l’esempio delle emoglobinopatie in "RENDICONTI" 2/2025, pp 201-209, DOI: 10.3280/rndoa2025oa21165