title: Beta 0 thalassemia trait in Sardinia.
abstract: The red cell indices and results of globin chain synthesis in peripheral blood of obligate beta 0 thalassemia (beta 0 thal) carriers (parents of homozygous beta 0 thal children) and beta thalassemia (beta thal) carriers identified during mass screening are reported. Red cell indices were similar in obligate beta 0 carriers and in carriers diagnosed during mass screening. However there was a higher incidence of anemia in female obligate beta 0 thal carriers. In Sardinia the beta 0 thal carrier showed the usual hematological characteristics of the high Hb A2 beta thal carrier with microcytosis, hypochromia, reduced osmotic fragility; Hb F greater than 1% was found in 30% of the carriers. With MCV, MCH, osmotic fragility test (OFT) and Shine and Lal discriminant function we found 3.5%, 1.5%, 3.5% and 4.0% respectively false negatives in carrier identification. A part from one subject, all obligate carriers had elevated Hb A2 levels. The alpha/beta ratio in obligate carriers (mean +/- SD) was 1.83 +/- 0.26 (N = 30).
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin; D006580:Genetic Carrier Screening; D006441:Hemoglobin A; D006454:Hemoglobins; D006801:Humans; D007501:Iron / Q000378:metabolism; D007558:Italy; D008297:Male; D008875:Middle Aged; D009996:Osmotic Fragility; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin; D007501:Iron