Zusammenfassung
Es wird über eine junge Patientin mit Cooley-Anämie berichtet, deren Vater die klinischen Zeichen einer heterozygoten Thalassämie aufwies, während die Mutter scheinbar gesund war. Der Bruder der Patientin zeigte HBF-Spiegel um 18%, die Schwester um 45%. Die Untersuchung der in vitro-Biosynthese der Globin-Ketten erlaubte es, die Mutter der Patientin als heterozygote Trägerin der Thalassämie zu entlarven.
Summary
The case of a girl affected by a Cooley's disease of moderate severity is reported. A brother and a sister had levels of Hb F respectively of 18% and 45%. The father showed all the hematological signs of heterozygous thalassemia. The mother, however, was normal so far as osmotic fragility, red cell morphology, and Hb A2 level are concerned. In vitro hemoglobin chains biosynthesis was performed in all the subjects. Both the parents showed an alfa/ non alfa ratio typical of beta thalassemia. Therefore, the mother has to be considered a “silent” carrier of the trait. The daughters and the son have a less severe Cooley disease originating by such a double heterozygosity.
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Aicardi, G., Naselli, A., Sciarratta, G.V. et al. The silent carrier of beta thalassemia: interaction with the typical beta thalassemic trait. Blut 38, 473–478 (1979). https://doi.org/10.1007/BF01013508
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DOI: https://doi.org/10.1007/BF01013508