Feasibility of molecular diagnosis of α-thalassemia in the evaluation of microcytosis

Piera Sivera, Antonella Roetto, Umberto Mazza, Clara Camaschella

Research output: Contribution to journalArticle

Abstract

Microcytosis is a common hematological finding, usually related to iron deficiency or β-thalassemia. When both of these conditions are excluded, α- thalassemia must be considered in the differential diagnosis. No simple biochemical test is able to diagnose the α-thalassemia trait. Using PCR amplification of the breakpoint in deletional forms, and amplification of the α2 gene and restriction enzyme digestion in non-deletional forms, we identified the α-thalassemia carrier status in 42 our of 51 (82%) patients with microcytosis or slight microcytic anemia, unrelated to iron deficiency or β-thalassemia. Our results underline the usefulness of molecular tests in clinical practice.

Original languageEnglish
Pages (from-to)592-593
Number of pages2
JournalHaematologica
Volume82
Issue number5
Publication statusPublished - Sep 1997

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Keywords

  • α-thalassemia
  • Microcytosis
  • PCR

ASJC Scopus subject areas

  • Hematology

Cite this

Sivera, P., Roetto, A., Mazza, U., & Camaschella, C. (1997). Feasibility of molecular diagnosis of α-thalassemia in the evaluation of microcytosis. Haematologica, 82(5), 592-593.