Thalassemia natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]
Overview
Natural History
Complications
The complications of thalassemia are largely related to iron overload from repeated transfusions. Iron deposition can occur in various organs.
- Cardiac failure: Infiltrative cardiomyopathy can occur with repeated transfusions from thalassemia. This manifests as diastolic dysfunction. Signs and symptoms of iron overload in the heart include shortness of breath, chest pain, decreased exercise tolerate, edema, elevated jugular venous pressure, crackles, and occasionally abdominal distension. The diagnosis of cardiac iron overload typically involves obtaining an echocardiogram (to assess for diastolic and systolic dysfunction). Echocardiogram can show a sparkled appearance of the involved chambers (from iron deposits) and sometimes a decreased ejection fraction). EKG typically shows low-voltage QRS complexes, due to the impaired electrical conduction through a disease heart containing significant iron. MRI with T2 star sequences can be of great benefit, as this particularly assess for iron deposition in the heart.[1] Laboratory workup that can assist with diagnosis includes measurement of troponin and nt-proBNP.[1] There are two phenotypes for cardiac failure:
- Dilated phenotype: Left ventricular dilatation and impaired contractility are present.
- Restrictive phenotype: Restrictive left ventricular filling is present along with pulmonary hypertension and right heart failure.
Treatment of iron deposition in the heart involves use of beta-blockers, ACE inhibitors, inotropes (which improve systolic dysfunction), and lusitropes (which improve diastolic dysfunction).
- Thyroiditis: Infiltrative thyroiditis can occur with iron overload from repeated transfusions from thalassemia. Signs and symptoms of iron overload in the thyroid gland include fatigue, cold intolerance, coarse hair, constipation, weight gain, palpable thyroid (goiter), decreased deep-tendon reflexes. Iron deposition in the thyroid can be assessed via thyroid ultrasound and measurement of thyroid-stimulating hormone (TSH) and free thyroxine (t4) levels. Treatment of iron deposition in the thyroid involves thyroid hormone replacement, typically with levothyroxine 1.7 mcg/kg/day.[1]
- Hepatic failure: Infiltrative hepatitis can occur with iron overload from repeated transfusions from thalassemia. Signs and symptoms include right upper quadrant pain, jaundice, dark urine, clay-colored stools, nausea, and tender hepatomegaly. Diagnostic considerations include liver ultrasound, CT of the abdomen, MRI of the abdomen, assessment of liver function tests (total bilirubin, AST, ALT, albumin, alkaline phosphatase. Treatment of iron overload in the liver involves consideration of liver transplant and diuretics.[1]
All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. These complications are mostly prevalent to thalassemia Major and Intermedia patients.