Hereditary acanthocytosis associated with the McLeod phenotype of the Kell blood group system.
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| Abstract |
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.
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| Authors | W A Symmans, C S Shepherd, W L Marsh, R Oyen, S B Shohet, B J Linehan |
| Journal | British journal of haematology (Br J Haematol) Vol. 42 Issue 4 Pg. 575-83 (Aug 1979) ISSN: 0007-1048 [Print] England |
| PMID | 476009 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.) |
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