Summary
Among 5 families with SBH of Neapolitan origin, hereditary glyco-lipidosis was accompanied in one by β-thalassemia. All 10 members of this family, namely parents and 8 siblings, were investigated. The mother and two children were found to be carriers of both SBH and β-thalassemia, while three other siblings were carriers of SBH alone. None of the six patients conformed the classic clinical picture often observed in genotypical SBH. The present state of genotypic transmission of the stigma is discussed on the basis of the author's experience as well as of the data in the literature. As for the combination SBH-β-thalassemia in the same individual, it may be concluded that the two genes are most likely independent and certainly not linked.
Zusammenfassung
Seeblau-Histiozytose (SBH) und β-Thalassämie (Thal.) wurden von den Verff. in einer 10köpfigen Familie, die alle neapolitanischer Herkunft, entdeckt. Mutter und 2 Kinder wurden erkannt als Träger von SBH + β-Thal., während bei 3 weiteren Kindern nur SBH festzustellen war. Keiner der erwähnten 6 Patienten zeigte das klassische klinische Bild, das oft bei genotypischer SBH beobachtet wird. Verff. folgern, daß zwischen SBH- und β-Thal.-Genen höchstwahrscheinlich Unabhängigkeit, sicherlich aber keine Bindung besteht. Die Tatsache, daß Verff. gleich 3 Fälle mit Kombination beider Symptome fanden, kann nur erklärt werden aus dem gehäuften Thalassämievorkommen im neapolitanischen Bezirk und dem relativen Vorkommen von Seeblau-Histiozytose ebendort.
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Quattrin, N., De Rosa, D., Quattrin, S. et al. Sea-blue histiocytosis and β-thalassemia in the same family. Blut 30, 325–330 (1975). https://doi.org/10.1007/BF01633651
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DOI: https://doi.org/10.1007/BF01633651