
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).
Adult, Male, Adolescent, Genetic Carrier Screening, Iron, Hemoglobin A, Middle Aged, Hemoglobins, Osmotic Fragility, Italy, Humans, Thalassemia, Female, Fetal Hemoglobin
Adult, Male, Adolescent, Genetic Carrier Screening, Iron, Hemoglobin A, Middle Aged, Hemoglobins, Osmotic Fragility, Italy, Humans, Thalassemia, Female, Fetal Hemoglobin
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