Literature DB >> 3962280

A family demonstrating inheritance of the Leach phenotype: a Gerbich-negative phenotype associated with elliptocytosis.

G L Daniels, M A Shaw, P A Judson, M E Reid, D J Anstee, P Colpitts, S Cornwall, B P Moore, S Lee.   

Abstract

The proposita of a Canadian family and 2 of her sibs have the rare Leach phenotype and provide the first evidence that the Leach phenotype is an inherited condition. Their red cells are Ge: -2, -3 and fail to react, by the antiglobulin test, with the monoclonal antibodies GERO, BRIC 4 and BRIC 10. The minor sialoglycoproteins beta, beta 1 and gamma are apparently absent from their red cell membranes. A proportion of their red cells are elliptocytes indicating that beta and/or beta 1 and/or gamma have a function in maintaining normal red cell shape.

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Year:  1986        PMID: 3962280     DOI: 10.1111/j.1423-0410.1986.tb04860.x

Source DB:  PubMed          Journal:  Vox Sang        ISSN: 0042-9007            Impact factor:   2.144


  5 in total

1.  Another example of a KEL1 variant red cell phenotype due to a threonine to serine change at position 193 of Kell glycoprotein.

Authors:  Hallie Lee-Stroka; Stefanie L Slezak; Sharon Adams; Joshua Martin; Fu-Meei Robbins; Lorraine Caruccio; Karen M Byrne; David F Stroncek
Journal:  Transfusion       Date:  2008-02-01       Impact factor: 3.157

2.  Structural relationships between human erythrocyte sialoglycoproteins beta and gamma and abnormal sialoglycoproteins found in certain rare human erythrocyte variants lacking the Gerbich blood-group antigen(s).

Authors:  M E Reid; D J Anstee; M J Tanner; K Ridgwell; G T Nurse
Journal:  Biochem J       Date:  1987-05-15       Impact factor: 3.857

3.  Inheritance of human-erythrocyte Gerbich blood group antigens.

Authors:  M E Reid; C Sullivan; M Taylor; D J Anstee
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

4.  Genetic variants of human red-cell membrane sialoglycoprotein beta. Study of the alterations occurring in the sialoglycoprotein-beta gene.

Authors:  M J Tanner; S High; P G Martin; D J Anstee; P A Judson; T J Jones
Journal:  Biochem J       Date:  1988-03-01       Impact factor: 3.857

5.  Localization of the protein 4.1-binding site on human erythrocyte glycophorins C and D.

Authors:  N J Hemming; D J Anstee; W J Mawby; M E Reid; M J Tanner
Journal:  Biochem J       Date:  1994-04-01       Impact factor: 3.857

  5 in total

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