Molecular basis for elliptocytosis associated with glycophorin C and D
deficiency in the Leach phenotype
MJ Telen, C Le Van Kim, A Chung, JP Cartron and Y Colin
Department of Medicine, Duke University Medical Center, Durham, NC 27710.
Glycophorin C (GPC) and glycophorin D (GPD) are highly glycosylated
integral membrane proteins of human erythrocytes encoded by the same gene
and associated with expression of Gerbich blood group system antigens.
GPC/D deficiency (the Leach phenotype) is a rare condition usually found
after identification of Gerbich blood group system antibodies in persons
undergoing prenatal or pretransfusion evaluation. In all cases, the Leach
phenotype has been associated with elliptocytosis. Characterization of the
molecular basis of this phenotype in three previously uninvestigated
families has shown that the most common genetic basis of GPC/D deficiency
is deletion of exons 3 and 4 of the GPC gene. However, in one family, the
Leach phenotype appeared due to a deletion of one nucleotide in exon 3,
causing a frameshift mutation in the messenger RNA and premature generation
of a stop codon. The GPC and GPD protein sequences are therefore
interrupted in the extracellular domain and probably intracellularly
degraded.
Volume 78,
Issue 6,
pp. 1603-1606,
09/15/1991
Copyright © 1991 by The American Society of Hematology
