title: A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.
abstract: We report on the complete absence of protein 4.2 in two Tunisian siblings. The propositus presented with a haemolytic anaemia that evolved in an intermittent fashion until she was cured by splenectomy. Her red cells had a normal morphology, as well as normal deformability upon osmotic gradient ektacytometry. SDS-polyacrylamide gel electrophoresis failed to reveal any protein 4.2. Using anti-protein 4.2 polyclonal antibodies. Western blots were also unable to detect protein 4.2. Preparation of inside out vesicles resulted in no detectable loss of ankyrin. The propositus's sister presented with a haemolytic anaemia but had not undergone splenectomy; she showed the same biochemical features. The two cases presented of missing protein 4.2 are the first ones to be described outside the Japanese population. Considered as homozygotes for some defect that must alter the protein 4.2 gene itself, they exemplify a unique syndrome pertaining neither to elliptocytosis nor to spherocytosis, at least not closely. The parents, who are first cousins and whom we regarded as heterozygotes, were clinically and morphologically normal; they had a normal content of protein 4.2. Therefore, the 4.2 (-) haemolytic anaemia appears as entirely recessive.
authors.affiliation: Service de Biochimie Clinique, Hôpital d'Enfants, Tunis, France.
authors.forename: A
authors.initials: A
authors.lastname: Ghanem
authors.forename: B
authors.initials: B
authors.lastname: Pothier
authors.forename: J
authors.initials: J
authors.lastname: Marechal
authors.forename: M T
authors.initials: MT
authors.lastname: Ducluzeau
authors.forename: L
authors.initials: L
authors.lastname: Morle
authors.forename: N
authors.initials: N
authors.lastname: Alloisio
authors.forename: C
authors.initials: C
authors.lastname: Feo
authors.forename: A
authors.initials: A
authors.lastname: Ben Abdeladhim
authors.forename: S
authors.initials: S
authors.lastname: Fattoum
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics; D001798:Blood Proteins / Q000172:deficiency*; D003598:Cytoskeletal Proteins; D004910:Erythrocyte Membrane / Q000032:analysis*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D010375:Pedigree; D014416:Tunisia
chemical_list: D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C044791:erythrocyte membrane band 4.2 protein