title: Increasing prevalence of thalassemia in America: Implications for primary care.
abstract: Thalassemia, once a rarity in the United States, is increasingly encountered in clinical practice due to shifts in immigration. Early carrier screening in at-risk populations can help clinicians implement genetic counseling and prevent new cases. Chronic transfusions are the mainstay of therapy for patients with severe thalassemia (beta thalassemia major), and are used intermittently in individuals with milder forms of thalassemia (Hb H/H Constant Spring disease and beta thalassemia intermedia). Iron overload is a major source of morbidity and mortality in individuals with transfusion and non-transfusion-dependent thalassemia, necessitating iron chelation therapy. Iron overload contributes to increased risk of cirrhosis, heart failure, and endocrinopathies, while ineffective erythropoiesis and hemolysis contribute to multiple complications, including splenomegaly, extramedullary hematopoiesis, pulmonary hypertension, and thrombosis. An understanding of the importance of carrier screening, complications, monitoring, and management strategies, coupled with collaboration with a hematologist with thalassemia expertise, is essential to reduce the morbidity and mortality in patients with thalassemia.
authors.affiliation: a Perelman School of Medicine, University of Pennsylvania , Division of Hematology-Oncology, Department of Medicine , Philadelphia , USA.
authors.forename: Farzana A
authors.initials: FA
authors.lastname: Sayani
authors.affiliation: b Perelman School of Medicine, University of Pennsylvania , Children's Hospital of Philadelphia, Division of Hematology, Department of Pediatrics , Philadelphia , USA.
authors.forename: Janet L
authors.initials: JL
authors.lastname: Kwiatkowski
mesh_terms: D001803:Blood Transfusion / Q000379:methods*; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000209:etiology* / Q000628:therapy; D015995:Prevalence; D011320:Primary Health Care / Q000379:methods; D013789:Thalassemia / Q000150:complications / Q000453:epidemiology* / Q000628:therapy; D014481:United States / Q000453:epidemiology
chemical_list: D007502:Iron Chelating Agents
keywords: Iron chelation therapy; iron overload; prenatal diagnosis; primary care; primary prevention; screening; thalassemia