Beta Thalassemia Clinical Presentation

Updated: May 07, 2021
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History and Physical Examination

Patients with the beta thalassemia trait generally have no unusual physical findings. In patients with beta thalassemia major, the physical findings are related to severe anemia, ineffective erythropoiesis, extramedullary hematopoiesis, and iron overload resulting from transfusion and increased iron absorption.

The skin may show pallor from anemia and jaundice from hyperbilirubinemia, and the skull and other bones may be deformed secondary to erythroid hyperplasia with intramedullary expansion and cortical bone thinning. Skin ulceration may be present on the extremities.

Thalassemia can result in maxillary enlargement, leading to an appearance known as chipmunk face, along with increased spaces between teeth, overbite, and malocclusion. Painful swelling of salivary glands and a dry mouth may occur, which leads to reduced salivary protection and an increased rate of tooth decay. [6]

Cardiac examination may reveal heart failure and arrhythmia (eg, atrial fibrillation [7] ), related to either severe anemia or iron overload.

Abdominal examination may reveal changes in the liver, gallbladder, and spleen. Hepatomegaly related to significant extramedullary hematopoiesis is typically found. Patients who have received blood transfusions may have hepatomegaly or chronic hepatitis due to iron overload.

The gallbladder may contain bilirubin stones formed as a result of the patient's lifelong hemolytic state. Splenomegaly typically is observed as part of the extramedullary hematopoiesis or as a hypertrophic response related to the extravascular hemolysis.

In addition to cardiac dysfunction, hepatomegaly, and hepatitis, iron overload can also cause endocrine dysfunction, especially affecting the pancreas, testes, and thyroid. Transfusion-associated viral hepatitis resulting in cirrhosis or portal hypertension also may occur.