Christos Demosthenous1, Efthymia Vlachaki2, Chrysa Apostolou2, Perla Eleftheriou3, Aggeliki Kotsiafti2, Evangelia Vetsiou2, Evdokia Mandala4, Vassilios Perifanis5, Pantelis Sarafidis6. 1. a Department of Hematology and HCT Unit , General Hospital of Thessaloniki "George Papanicolaou" , Thessaloniki , Greece. 2. b Adults Thalassemia Unit, Second Department of Internal Medicine , Aristotle University, Hippokration Hospital , Thessaloniki , Greece. 3. c Department of Haematology , University College London , London , UK. 4. d Fourth Department of Internal Medicine , Aristotle University, Hippokration Hospital , Thessaloniki , Greece. 5. e First Propedeutic Department of Internal Medicine , Aristotle University, AHEPA General Hospital of Thessaloniki , Thessaloniki , Greece. 6. f Department of Nephrology , Hippokration Hospital, Aristotle University of Thessaloniki , Thessaloniki , Greece.
Abstract
OBJECTIVES: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemic patients has led to the emergence of previously unrecognized complications, such as renal disease. METHODS: A comprehensive literature review through PubMed was undertaken to summarize the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. Literature sources published in English since 1990 were searched, using the terms beta-thalassemia, renal disease. RESULTS: Renal disease is considered to be the 4th cause of morbidity among patients with transfusion dependent thalassemia. Chronic anemia, hypoxia and iron overload are the main mechanisms implicated in development of renal injury, whereas several studies also suggested a contributive role of iron chelators. DISCUSSION AND CONCLUSION: Kidney disease may develop through progressive renal tubular and glomerular damage; thus, its early recognition is important in order to prevent and/or reverse deterioration. This review will provide an insight on the involved mechanisms implicated in kidney disease in thalassemic patients and will discuss the updates on diagnosis and prevention of renal complications in thalassemia.
OBJECTIVES:Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin chain synthesis, ineffective erythropoiesis, and anemia. Improved survival in thalassemicpatients has led to the emergence of previously unrecognized complications, such as renal disease. METHODS: A comprehensive literature review through PubMed was undertaken to summarize the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. Literature sources published in English since 1990 were searched, using the terms beta-thalassemia, renal disease. RESULTS:Renal disease is considered to be the 4th cause of morbidity among patients with transfusion dependent thalassemia. Chronic anemia, hypoxia and iron overload are the main mechanisms implicated in development of renal injury, whereas several studies also suggested a contributive role of iron chelators. DISCUSSION AND CONCLUSION:Kidney disease may develop through progressive renal tubular and glomerular damage; thus, its early recognition is important in order to prevent and/or reverse deterioration. This review will provide an insight on the involved mechanisms implicated in kidney disease in thalassemicpatients and will discuss the updates on diagnosis and prevention of renal complications in thalassemia.
Entities:
Keywords:
Beta-thalassemia; iron chelators; renal complications
Authors: Richard Coffey; Grace Jung; Joseph D Olivera; Gabriel Karin; Renata C Pereira; Elizabeta Nemeth; Tomas Ganz Journal: Blood Date: 2022-01-20 Impact factor: 22.113