6201431

Source:http://linkedlifedata.com/resource/pubmed/id/6201431

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0004083, umls-concept:C0005221, umls-concept:C0005283, umls-concept:C0017258, umls-concept:C0017262, umls-concept:C0019025, umls-concept:C0023745, umls-concept:C0185117, umls-concept:C0205161, umls-concept:C0439849, umls-concept:C0441712, umls-concept:C1521991, umls-concept:C2911684
pubmed:issue	2-3
pubmed:dateCreated	1984-5-30
pubmed:abstractText	We report a study of four families of Italian origin in which heterocellular HPFH is inherited linked to beta thalassemia over two or three generations. The HPFH + beta thalassemia carriers showed thalassemic blood pictures and elevated HbF and F-cell number without increase in the HbF/F-cell content. Association of this gene complex with a second beta thalassemia trait gives rise to a mild clinical picture characterized by 9-12 g/dl of mainly HbF in peripheral blood and no transfusion requirement. In two families, independent segregation of the HPFH or beta-thal trait was observed, and in one case the study of the DNA polymorphisms within the gamma delta beta gene cluster indicated that the HPFH mutation lies outside that DNA region. In one family the coexistence of a polymorphic variant of the A gamma chain (the A gamma T chain) allowed us to demonstrate that the increased gamma chain synthesis caused by the heterocellular HPFH determinant is directed by both chromosomes.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7613873
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/DNA Restriction Enzymes, http://linkedlifedata.com/resource/pubmed/chemical/Fetal Hemoglobin, http://linkedlifedata.com/resource/pubmed/chemical/Globins, http://linkedlifedata.com/resource/pubmed/chemical/Hemoglobin A, http://linkedlifedata.com/resource/pubmed/chemical/Hemoglobin A2
pubmed:status	MEDLINE
pubmed:issn	0340-6717
pubmed:author	pubmed-author:CappelliniM DMD, pubmed-author:CarèAA, pubmed-author:CianettiLL, pubmed-author:GiampaoloAA, pubmed-author:MarinucciMM, pubmed-author:MassaAA, pubmed-author:MavilioFF, pubmed-author:PetriniMM, pubmed-author:RussoRR, pubmed-author:SposiN MNM
pubmed:issnType	Print
pubmed:volume	66
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	151-6
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:6201431-Adolescent, pubmed-meshheading:6201431-Adult, pubmed-meshheading:6201431-Aged, pubmed-meshheading:6201431-Child, pubmed-meshheading:6201431-Chromatography, High Pressure Liquid, pubmed-meshheading:6201431-Chromosome Mapping, pubmed-meshheading:6201431-DNA Restriction Enzymes, pubmed-meshheading:6201431-Female, pubmed-meshheading:6201431-Fetal Hemoglobin, pubmed-meshheading:6201431-Genetic Linkage, pubmed-meshheading:6201431-Globins, pubmed-meshheading:6201431-Hemoglobin A, pubmed-meshheading:6201431-Hemoglobin A2, pubmed-meshheading:6201431-Heterozygote, pubmed-meshheading:6201431-Humans, pubmed-meshheading:6201431-Italy, pubmed-meshheading:6201431-Male, pubmed-meshheading:6201431-Middle Aged, pubmed-meshheading:6201431-Pedigree, pubmed-meshheading:6201431-Thalassemia
pubmed:year	1984
pubmed:articleTitle	Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't