How is beta thalassemia diagnosed?

Updated: May 07, 2021
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Thalassemia major is a severe anemia that presents during the first few months after birth, when the patient’s level of fetal hemoglobin decreases. The diagnosis is usually obvious in the clinical setting of appropriate age and ethnic background. In some cases, the brisk erythropoiesis with increased erythroblasts may be mistaken for clonal proliferative disorders such as leukemia or myelodysplasia.

Skeletal abnormalities in patients with longstanding beta thalassemia major include an expanded bone marrow space, resulting in thinning of the bone cortex. These changes are particularly dramatic in the skull, which may show the characteristic “hair-on-end” appearance. [9] Bone changes can also be observed in the long bones, vertebrae, and pelvis.

The liver and biliary tract of patients with thalassemia major may show evidence of extramedullary hematopoiesis and damage secondary to iron overload from multiple transfusion therapy. Transfusion also may result in infection with the hepatitis virus, which leads to cirrhosis and portal hypertension. Gallbladder imaging may show the presence of bilirubin stones.

The heart is a major organ affected by iron overload and anemia. Cardiac dysfunction in patients with thalassemia major includes conduction system defects, decreased myocardial function, and fibrosis. Some patients also develop pericarditis. Cardiac magnetic resonance imaging (MRI) is considered the criterion standard for measuring cardiac indices, as well as for evaluating cardiac overload by measurement of T2* (relaxation parameter), with a cardiac T2* of less than 10 ms being the most important predictor of development of heart failure. [10]

Thalassemia minor usually presents as a mild, asymptomatic microcytic anemia and is detected through routine blood tests in adults and in older children. These laboratory findings should be evaluated as indicated.

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