Thalassemia natural history, complications and prognosis

Thalassemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Thalassemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
Echocardiography and Ultrasound
CT
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Thalassemia natural history, complications and prognosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Thalassemia natural history, complications and prognosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Thalassemia natural history, complications and prognosis
CDC on Thalassemia natural history, complications and prognosis
Thalassemia natural history, complications and prognosis in the news
Blogs on Thalassemia natural history, complications and prognosis
Directions to Hospitals Treating Thalassemia
Risk calculators and risk factors for Thalassemia natural history, complications and prognosis

Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]

Complications

The complications of thalassemia are largely related to iron overload from repeated transfusions. Iron deposition can occur in various organs.

• Cardiac failure: Iron deposition in the heart can cause an infiltrative cardiomyopathy. Symptoms of iron overload in the heart include shortness of breath, chest pain, decreased exercise tolerate, edema, 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. Laboratory workup that can assist with diagnosis includes measurement of troponin and nt-proBNP.
• Thyroiditis: Infiltrative thyroiditis can occur with iron overload from repeated transfusions from thalassemia. Iron deposition in the thyroid can be assessed via thyroid ultrasound and measurement of thyroid-stimulating hormone (TSH) and free thyroxine (t4) levels.

Iron deposi 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.