Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0039730 (
thalassemia
)
10,305
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Sea-blue histiocytosis and beta-thalassemia in the same family. 113 25
