Prevalence of α-Globin Gene Deletions Among Patients with Unexplained Microcytosis in a North-American Population

Abstract

Increasing multi-ethnicity is likely to make α-thalassemia (α-thal) more prevalent in Western metropolitan areas. Multiplex polymerase chain reaction (m-PCR) allows rapid and precise identification of most of α-thal carriers. With this method, we sought to determine the prevalence of α-thal and the corresponding genotype, among all non repetitive consecutive blood samples that had an unexplained microcytosis. These specimens had been sent to the hematology laboratory for a blood count analysis, found to be microcytic, and secondarily tested for ferritin level and hemoglobin (Hb) high performance liquid chromatography (HPLC) profile. Five hundred and sixteen microcytic blood samples were evaluated and 197 samples with normal ferritin and Hb HPLC were studied by m-PCR. Among 196 interpretable PCRs, 48 α-thal cases (24.5%) were identified: 28 with a single α-globin gene deletion and 20 with two α-globin gene deletions. Of these 20 cases, six showed two deletions in cis. None of the erythrocytic parameters studied predicted the presence of α-thal deletions. We conclude that a significant proportion (24.5%) of blood counts with microcytosis not explained by an iron deficiency, an inflammatory state or an abnormal Hb on HPLC, are caused by an α-globin gene deletion. The pertinence of genetic counseling for α-thal based on molecular diagnosis should be evaluated more formally in urban centers where this genetic condition is likely to have an increasing prevalence and clinical relevance.

• α-Thalassemia (α-thal)
• Multiplex polymerase chain reaction (m-PCR)
• Microcytosis