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  • Title: Feasibility of molecular diagnosis of alpha-thalassemia in the evaluation of microcytosis.
    Author: Sivera P, Roetto A, Mazza U, Camaschella C.
    Journal: Haematologica; 1997; 82(5):592-3. PubMed ID: 9407728.
    Abstract:
    Microcytosis is a common hematological finding, usually related to iron deficiency or beta-thalassemia. When both of these conditions are excluded, alpha-thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the alpha-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the alpha 2 gene and restriction enzyme digestion in non-deletional forms, we identified the alpha-thalassemia carrier status in 42 out of 51 (82%) patients with microcytosis or slight microcytic anemia, unrelated to iron deficiency or beta-thalassemia. Our results underline the usefulness of molecular tests in clinical practice.
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