title: Feasibility of molecular diagnosis of alpha-thalassemia in the evaluation of microcytosis.
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.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Azienda Ospedaliera S. Luigi, Orbassano, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Sivera
authors.forename: A
authors.initials: A
authors.lastname: Roetto
authors.forename: U
authors.initials: U
authors.lastname: Mazza
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D018798:Anemia, Iron-Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics