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.
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