title: Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia.
abstract: We present 2 siblings with a severe congenital haemolytic anaemia. Red cells displayed a variety of abnormal shapes, including leptocytes, schizocytes and elliptocytes. Repeatedly, skeletal protein 4.1 appeared reduced by 30%. The 4.1a/4.1b ratio was normal despite the haemolytic state. No change could be detected in spectrin, nor in sialoglycoproteins. Band 3 was denser, narrower and displaced downward. The parents, who are consanguineous, were devoid of any obvious biochemical abnormality; however, their red cells were not normal. These 2 cases with reduced protein 4.1 clearly depart from 4.1 (-) hereditary elliptocytosis. The possibility of an altered binding of protein 4.1 to some other membrane component is discussed.
mesh_terms: D000293:Adolescent; D000743:Anemia, Hemolytic / Q000097:blood* / Q000235:genetics; D001457:Anion Exchange Protein 1, Erythrocyte / Q000032:analysis / Q000502:physiology; D001798:Blood Proteins / Q000172:deficiency*; D003598:Cytoskeletal Proteins; D004910:Erythrocyte Membrane / Q000032:analysis*; D004912:Erythrocytes / Q000166:cytology; D006358:Hot Temperature; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000032:analysis; D009479:Neuropeptides; D010375:Pedigree; D013049:Spectrin / Q000032:analysis
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D001798:Blood Proteins; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; D009479:Neuropeptides; C028841:erythrocyte membrane band 4.1 protein; C120557:erythrocyte membrane protein band 4.1-like 1; D013049:Spectrin