A family has been observed in which a β thalassemia determinant is inherited over three generations together with high Hb F level (8-12 % and increased number of fetal-hemoglobin-containing-cells (F-cells). The values of red cell indices and globin chain synthesis ratios, yet typical of β thalassemia, were significantly shifted to the normal values when compared with those of typical β thalassemia heterozygotes belonging to the same family group. The occurrence in these individuals of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant and its linkage relationship with the β thalassemia is discussed. In the third generation two adult individuals were β thalassemia homozygotes having inherited a β thalassemia determinant from one parent and a β thalassemia together with the HPFH determinant from the other. They showed an extremely mild clinical condition, and 11-12 g/dl of mainly Hb F without having ever required blood transfusions. Virtually all the red cells were F-cells in both subjects. The importance of the coexistence of HPFH determinants capable of increasing the size of the F-cell population in patients affected by homozygous thalassemia is discussed, considering the sensible benefit which derives from enhanced Hb F production in this syndrome. © 1981 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
β thalassemia associated with increased HB f production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (hpfh) determinant linked to β thalassemia in a southern italian population / Marinucci, M.; Mavilio, F.; Giuliani, A.; Gabbianelli, M.; Tentori, L.; Tentori, L.; Zorini, C. O.; Lamberti, E.; Palazzolo, A.; Lanzo, D.. - In: HEMOGLOBIN. - ISSN 0363-0269. - 5:1(1981), pp. 1-17. [10.3109/03630268108996907]
β thalassemia associated with increased HB f production. Evidence for the existence of a heterocellular hereditary persistence of fetal hemoglobin (hpfh) determinant linked to β thalassemia in a southern italian population
Mavilio F.;
1981
Abstract
A family has been observed in which a β thalassemia determinant is inherited over three generations together with high Hb F level (8-12 % and increased number of fetal-hemoglobin-containing-cells (F-cells). The values of red cell indices and globin chain synthesis ratios, yet typical of β thalassemia, were significantly shifted to the normal values when compared with those of typical β thalassemia heterozygotes belonging to the same family group. The occurrence in these individuals of a heterocellular hereditary persistence of fetal hemoglobin (HPFH) determinant and its linkage relationship with the β thalassemia is discussed. In the third generation two adult individuals were β thalassemia homozygotes having inherited a β thalassemia determinant from one parent and a β thalassemia together with the HPFH determinant from the other. They showed an extremely mild clinical condition, and 11-12 g/dl of mainly Hb F without having ever required blood transfusions. Virtually all the red cells were F-cells in both subjects. The importance of the coexistence of HPFH determinants capable of increasing the size of the F-cell population in patients affected by homozygous thalassemia is discussed, considering the sensible benefit which derives from enhanced Hb F production in this syndrome. © 1981 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.Pubblicazioni consigliate
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