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Thalassemia syndromes are readily diagnosed in childhood through signs of severe anemia, hepatosplenomegaly, and blood abnormalities. Chronic blood transfusions are required to maintain hematocrit levels but lead to iron overload over time. Chelating agents like deferoxamine and deferasirox are used to remove excess iron and prevent endocrine deficiencies, cirrhosis, and cardiomyopathy associated with iron overload in chronically transfused patients.
Thalassemia syndromes are readily diagnosed in childhood through signs of severe anemia, hepatosplenomegaly, and blood abnormalities. Chronic blood transfusions are required to maintain hematocrit levels but lead to iron overload over time. Chelating agents like deferoxamine and deferasirox are used to remove excess iron and prevent endocrine deficiencies, cirrhosis, and cardiomyopathy associated with iron overload in chronically transfused patients.
Thalassemia syndromes are readily diagnosed in childhood through signs of severe anemia, hepatosplenomegaly, and blood abnormalities. Chronic blood transfusions are required to maintain hematocrit levels but lead to iron overload over time. Chelating agents like deferoxamine and deferasirox are used to remove excess iron and prevent endocrine deficiencies, cirrhosis, and cardiomyopathy associated with iron overload in chronically transfused patients.
• Readily made during childhood • Severe Anemia accompanied by the characteristic signs of massive ineffective erythropoiesis • Hepatosplenomegaly • Profound microcytosis • Elevated levels of HbF, HbA or both • Charactersitic blood smear (insert pic) • Many Patients require chronic hypertransfusion therapy to maintain a hematocrit of at least 27-30% > erythropoiesis is suppressed • Splenectomy required if the annual transfusion requirement increases by 50% • Folic Acid supplements • Pnuemovax in anticipation of eventual splenectomy is advised • Many Patients develop endocrine deficiencies as a result of iron overload Transfusional Hemosiderosis • Chronic blood transfusion can lead to bloodborn infection, alloimmunization, febrile reactions and lethal iron overload. • A unit of PRBC = 250-300mg iron • The iron assimilated by a single transfusion of 2 units of prbc is thus equal to a 1 to 2 year oral intake of iron. • Iron accumulates in chronically transfused patients because no mechanisms exist for increasing iron excretion • Vitamin C should not be supplemented because it generates free radicals in iron excess states. • Patients who receive >100 units of PRBCS usually develop hemosiderosis • Ferritin level rises, followed by early endocrine dysfunction ( glucose intolerance and delayed puberty), cirrhosis, and cardiomyopathy. • The decision to start long-term transfusion support should also prompt one to institute therapy with iron-chelating agents.
require chronic slow infusion via a metering pump. • The constant presence of the drug improves the efficiency of chelation and protects tissues from occasional releases of the most toxic fraction of iron – low molecular weight iron • Deferoxamine is relatively nontoxic. Occasional cataracts, deafness, and local skin reactions, including urticaria, occur • Skin reactions can usually be managed with antishistamines • Negative iron balance can be achieved, even in the face of a high transfusion requirement, but this alone does not prevent long term morbidity and mortality in chronically transfused patients • Deferasirox – oral iron chelating agent. • Single daily doses of 20-30mg/kg produced reductions in liver iron concentration comparable to deferoxamine in long term transfused patients. • Toxicities are similar to those of deferoxamine