Thalassemia natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Natural History
Complications
Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important. β-Thalassemia cardiomyopathy takes on two phenotypes:
- 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.
The pathophysiology of β-Thalassemia cardiomyopathy is multifactorial, with myocardial iron overload and immunoinflammatory processes being the predominant mechanisms.
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.