Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
|
| pubmed:dateCreated |
1979-11-29
|
| pubmed:abstractText |
Some boys with X-linked chronic granulomatous disease (CGD) have red cells of the rare McLeod phenotype in the Kell blood group system. Only one example of this phenotype has previously been described in a non-CGD subject. We have studied a 10-year-old boy and a maternal brother who do not have CGD and whose red cells are of the McLeod type . The boy presented as a haematological problem with red-cell abnormalities. These were acanthocytosis, anisocytosis and 'tailing' in the osmotic fragility curve, changes now known to occur with the McLeod phenotype. Subsequent studies revealed his rare blood group. A family study has established that an uncle also has acanthocytic red cells and the McLeod phenotype. In addition the boy's sister, mother and maternal grandmother all show red-cell mosaicism with double populations of McLeod acanthocytes and normal red cells of common Kell type. The gene that determines inheritance of the McLeod phenotype is X-linked and the mosaicism present in female carriers is believed to result from X chromosome inactivation by the Lyon effect. The study provides further evidence that the McLeod phenotype arises by inheritance of a variant X-linked modifying gene and not through inheritance of a variant gene at the Kell autosomal locus. It also represents the first occasion that a person of rare blood group has been recognized because of an associated anomaly in red cell morphology.
|
| 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 |
42
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
575-83
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:476009-Acanthocytes,
pubmed-meshheading:476009-Adult,
pubmed-meshheading:476009-Aged,
pubmed-meshheading:476009-Anemia, Hemolytic, Congenital,
pubmed-meshheading:476009-Blood Group Antigens,
pubmed-meshheading:476009-Child,
pubmed-meshheading:476009-Erythrocyte Membrane,
pubmed-meshheading:476009-Erythrocytes, Abnormal,
pubmed-meshheading:476009-Female,
pubmed-meshheading:476009-Humans,
pubmed-meshheading:476009-Kell Blood-Group System,
pubmed-meshheading:476009-Male,
pubmed-meshheading:476009-Membrane Lipids,
pubmed-meshheading:476009-Microscopy, Electron, Scanning,
pubmed-meshheading:476009-Osmotic Fragility,
pubmed-meshheading:476009-Pedigree,
pubmed-meshheading:476009-Phenotype,
pubmed-meshheading:476009-Phospholipids
|
| pubmed:year |
1979
|
| pubmed:articleTitle |
Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|