Linked Life Data

701089

Source:http://linkedlifedata.com/resource/pubmed/id/701089

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1978-12-27
pubmed:abstractText
In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The severity of hemoglobin H disease in Sardinian subjects shows a high degree of variability. Clinically it usually appears intermediate between the hemoglobin H disease found in Oriental and Negro populations. The alpha/beta specific activity ratio was 0.42 +/- 0.10 indicating an analogous biochemical defect like that described in the Chinese. On the basis of hematological data and alpha/beta ratio, the genetics of hemoglobin H disease in Sardinians seem to follow a pattern similar to that observed in Orientals: one parent showing alpha-thalassemia-1 trait and the other alpha-thalassemia-2 trait. Parent offspring transmission of hemoglobin H disease did occur in 2 out of 6 hemoglobin H matings with spouses carrying the alpha-thalassemia-1 gene. This observation indicates either a high frequency of alpha-thalassemia trait in Sardinians or a high incidence of inbreeding. In one family the mating of a patient with hemoglobin H disease and a normal person produces 6/6 offspring with alpha-thalassemia-1. The genetic implications of this transmission pattern are discussed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0363-0269
pubmed:author
pubmed:issnType
Print
pubmed:volume
2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
333-49
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Hemoglobin H disease in Sardinia: phenotypic and genetic observations.
pubmed:publicationType
Journal Article