Sea-blue histiocytosis and beta-thalassemia in the same family.
Among 5 families with SBH of Neapolitan origin, herediatry glyco-lipidosis was accompanied in one by beta-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 beta-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 the data in the literature. As for the combination SBH-thalassemia in the same individual it may be concluded that the two genes are most likely independent and certainly not linked.
D000328:Adult; D005260:Female; D006017:Glycolipids / Q000378:metabolism*; D006644:Histiocytes; D006801:Humans; D007558:Italy; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D013789:Thalassemia / Q000150:complications* / Q000235:genetics
D006017:Glycolipids