Lab results in patient with beta thalassemia show a microcytic, hypochromic anemia. This means that the mean corpuscular volume is less than 80 (MCV <80).
This particular dyscrasia is prevalent among Mediterranean populations; particularly Greece, Turkey and Italy.
Hemoglobin is normally composed of two α-chains and two β-chains. In this disorder, β-globin synthesis does not occur properly. There are varying phenotypes, correlating to if only one or both β-chains are effected.
Patients with β-thalassemia minor are diagnosed by having an increased HbA2 fraction (>3.5%). This type of hemoglobin is described by having two α-chains and two δ-chains (instead of β).
Often, these patients are asymptomatic and are monitored for symptoms.
This is a severe microcytic, hypochromic anemia. Untreated, it causes anemia, splenomegaly and severe bone deformities. It progresses to death before age 20. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Cure is possible by bone marrow transplantation.
Patients with this disease can develop a secondary hemochromatosis (due to frequent blood transfusions).
Patients with this disease develop erythroid hyperplasia and have marrow expansion. This manifests as a "crew-cut" skull on x-ray and "chipmunk facies."
Diagnosis for beta thalassemia minor is confirmed with increased HbA2 on hemoglobin electorphoresis. Alternatively, beta thalassemia major is diagnosed by finding increased HbF on hemoglobin electrophoresis.
Picmonic's rapid review multiple-choice quiz allows you to assess your knowledge.
*Average video play time: 2-3 minutes
Unforgettable characters with concise but impactful videos (2-4 min each)