Category: International EM
Posted: 3/6/2013 by Walid Hammad, MD, MBChB
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-A genetic autosomal recessive blood disorders that result from a defect in either the alpha (α) or Beta (β) globin chain in the hemoglobin molecule.
-Most common in people from a Mediterranean origin.
-Three types depending on the affected globin chain, α, β, or Delta (δ)
-Presents as hemolytic anemia with hepato-splenomegaly.
-Can present as mild anemia and may be misdiagnosed as iron deficiency anemia.
-Diagnosis is made through studies such as bone marrow examination, hemoglobin electrophoresis, and iron studies.
-The disease can cause hemochromatosis, which may be worsened by repeated blood transfusions.
-Hemochromatosis damages multiple organs including the Liver, spleen, endocrine glands and the heart causing cardiomyopathy and consequently heart failure.
-Severe thalassemia usually requires blood transfusion on regular basis (first measure effective in prolonging life)
-Treatment of trait cases is symptomatic with analgesics, anti-inflammatory (steroids or NSAIDs)
-The introduction of chelating agents capable of removing excessive iron from the body has dramatically increased life expectancy.
-Deferasirox (Exjade) was approved by the FDA in January 2013 for treatment of chronic iron overload caused by nontransfusion-dependent thalassemia.
Delvecchio M, Cavallo L. Growth and endocrine function in thalassemia major in childhood and adolescence. J Endocrinol Invest. Jan 2010;33(1):61-8
Cunningham MJ, Macklin EA, Neufeld EJ, et al. Complications of beta-thalassemia major in North America. Blood. Jul 1 2004;104(1):34-9
Fucharoen S, Ketvichit P, Pootrakul P, et al. Clinical manifestation of beta-thalassemia/hemoglobin E disease. J Pediatr Hematol Oncol. Nov-Dec 2000;22(6):552-7
Claude Owen Burdick. "Separating Thalassemia Trait and Iron Deficiency by Simple Inspection". American Society for Clinical Pathology. http://ajcp.ascpjournals.org/content/131/3/444.short
