A Family Demonstrating Inheritance of the Leach Phenotype: a Gerbich‐Negative Phenotype Associated with Elliptocytosis

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.

Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types.. Immunochemical study and genomic analysis with cDNA probes

“…This difference might be related to heterogeneity of their sugar chains [16]. Interestingly, the presence of the new GP in each cell type was accompanied by the lack of GP C and GP D [13,19,20,27], two minor glycoproteins carrying the blood group Gerbich determinants [13,141. In this report, we have confirmed these data and showed unambigously that the membranes from Ge-1*-29-3 heterozygote individuals also carry the new GP but, for some unknown reason, to a much lesser extent than expected on the basis of one gene dose response.…”

“…They can be subdivided into two categories (types Ge:-1,-2,-3 and Ge:-1,-2,3) depending on whether or not they express the Ge:3 determinant [15]. These cells carry an unusual sialoglycoprotein which exhibits features of both GP C and GP D. This new GP, which is absent from Leach-type erythrocytes [12,19,201 is assumed, just like GP C and GP D, to interact with the membrane skeletal proteins, thereby maintaining the normal shape of the corresponding Gevariant red cells…”

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

“…Leach-phenotype erythrocytes from donors KW (Anstee et al, 1984), SS, JJ and TL (Daniels et al, 1986) Peptide synthesis and coupling to carriers GPC peptides corresponding to amino acid residues 112-128 (Asp-Pro-Ala-Leu-Gln-Asp-Ala-Gly-Asp-Ser-Ser-Arg-Lys-GluTyr-Phe-Ile) (GPC peptide 1), 99-111 (Thr-Glu-Phe-Ala-GluSer-Ala-Asp-Ala-Ala-Leu-Gln-Gly) (GPC peptide 2) and 82-98 (Arg-Tyr-Met-Tyr-Arg-His-Lys-Gly-Thr-Tyr-His-Thr-AsnGlu-Ala-Lys-Gly) (GPC peptide 3) were synthesized using fluoren-9-ylmethoxycarbonyl (Fmoc)-protected amino acids (Atherton et al, 1981), as preactivated pentafluorophenyl esters (Kisfaludy and Schon, 1983), with a continuous-flow solid-phase polyamide resin (Dryland and Sheppard, 1986), on a Milligen 9050 PepSynthesizer. The synthesized peptides were cleaved from the resin and deprotected with trifluoroacetic acid/ethanedithiol/water/phenol (93:2.5:2.5:2, by vol.)…”

“…Erythrocytes lacking GPC and GPD (Leach phenotype) are elliptocytic (Anstee et al, 1984;Daniels et al, 1986), suggesting that these proteins play a role in regulating the stability and mechanical properties of normal erythrocytes. An attachment to the skeleton is likely, as GPC and GPD remain firmly associated with the skeletal proteins after extraction of erythrocyte membranes with non-ionic detergent (Mueller and Morrison, 1981).…”

Anti-Gerbich Antibodies and Gerbich-Negative Dantu-Positive Red Blood Cells in a Woman from South Africa

“…Red cells with Leach type membranes also give negative results with anti-Ge2 and anti-Ge3 anti bodies. The Kell and para-Kell antigens are often expressed weakly on Genegative red cells of the Gerbich and Leach types but are usually expressed nor mally on those of the Yus type [4][5][6]. AntiGe2 antibodies are found more often than anti-Ge2,3 antibodies in persons with Ge:-2,-3 (Gerbich) red cells [4].…”