Linked Life Data

6168279

Source:http://linkedlifedata.com/resource/pubmed/id/6168279

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1981-11-18
pubmed:abstractText
The interaction between beta(0) thalassemia and an heterocellular form of hereditary persistence of fetal haemoglobin (HPFH), presumably of the Swiss type, has been studied in three generations of a family in which both traits occur. The haematological parameters and the segregation of the two characters in the family suggest that the propositus, a 52-year-old male from southern Sardinia, is homozygous for beta(0) thalassemia and carrier of the HPFH. In spite of the complete suppression of adult haemoglobin synthesis, the patient is not anaemic and shows only morphological abnormalities of the red cells associated with a moderate decrease of the erythrocyte life span. Studies of the synthesis of haemoglobin chains in vitro have revealed only a mild degree of unbalance in the propositus, with a gamma/alpha ratio of 0.67, and a very slight unbalance in a 3-year-old child heterozygous for beta thalassaemia and HPFH. Preliminary analysis of the linkage between this kind of heterocellular HPFH and the beta Hb locus has been performed, utilizing all the suitable families reported in the literature. Although positive lod scores (1.535) have been obtained at a recombination fraction of 0.20, the data available are not sufficient to conclude in favour or against the linkage between the beta Hb locus and the heterocellular type of HPFH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
48
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
561-72
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't