Hereditary dehydrated and overhydrated stomatocytosis: Recent advances

Current Opinion in Hematology

Volumn 6, Issue 2, 1999, Pages 110-114

  Delaunay, Jean ^a   Stewart, Gordon ^b   Iolascon, Achille ^c  

^a BICÊTRE HOSPITAL   (France)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^c UNIVERSITY OF BARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL MEMBRANE PROTEIN; POTASSIUM ION; SODIUM ION;

CELL MEMBRANE PERMEABILITY; DIFFERENTIAL DIAGNOSIS; ERYTHROCYTE FRAGILITY; HEREDITARY SPHEROCYTOSIS; HUMAN; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; REVIEW; SPLENECTOMY; THROMBOSIS;

ADULT; ANEMIA, HEMOLYTIC, CONGENITAL; DEHYDRATION; ERYTHROCYTE MEMBRANE; ERYTHROCYTES, ABNORMAL; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; LABORATORY TECHNIQUES AND PROCEDURES; POTASSIUM; SODIUM;

EID: 0032791249     PISSN: 10656251     EISSN: None     Source Type: Journal    
DOI: 10.1097/00062752-199903000-00009     Document Type: Review

References (33)

1. Lock SP, Sephton Smith R, Hardisty RM: Stomatocytosis: a hereditary red cell anomaly associated with haemolytic anaemia. Br J Haematol 1961, 7:303-314.
2. Glader BE, Fortier N, Albala MM, Nathan DG: Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. N Engl J Med 1974, 291:491-496.
3. Entezami M, Becker R, Menssen HD, Marcinkowski M, Versmold HT: Xerocytosis with concomitant intrauterine ascites: first description and therapeutic approach [letter]. Blood 1996, 87:5392-5393.
4. Grootenboer S, Schischmanoff PO, Cynober T, Rodrigue, JC, Delaunay, J, Tchernia G, Dommergues, JP: A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. Br J Haematol 1998, 103:383-386. This work confirms and extends that by Entezami et al. [3]. In several members of an unrelated kindred, the authors describe the coexistence of dehydrated HS, FP, and PE, strengthening the evidence for the genetic linkage of dehydrated HS and PE and showing FP to be an additional erythrocytic manifestation. The authors assessed that dehydrated HS, far from being restricted to a hemolytic anemia, may encompass other manifestations that had been described on their own before, PE being, in itself, a body of heterogeneous disorders. Indeed, nearly all combinations have been found ever since (Grootenboer et al., Unpublished data). They also hinted that all three types of disorders derive from the same genetic locus. For the time being, Carella et al. and lolascon et al. [17**,18**] indicate that the genes responsible for isolated dehydrated HS and isolated FP map to the same region.
5. Miller G, Townes PL, MacWhinney JB: A new congenital hemolytic anemia with deformed erythrocytes ("stomatocytes") and remarkable susceptibility of erythrocytes to cold hemolysis in vitro. Pediatrics 1965, 35:906-915.
6. Stewart GW, Corrall RJM, Fyffe JA, Stockdill G, Strong JA: Familial pseudohyperkalaemia. Lancet 1979, ii:175-177.
7. Wiley JS: Inherited red cell dehydration: a hemolytic syndrome in search of a name. Pathology 1984, 16:115-116.
8. Johnson RM, Ravindranath Y: Osmotic scan ektacytometry in clinical diagnosis. J Pediatr Hematol Oncol 1996, 18:122-129.
9. Stewart GW, Ellory JC, Klein RA: Increased human red cell cation passive permeability below 12°C. Nature 1980, 286:403-404.
10. Meenaghan M, Follett GF, Brophy PJ: Temperature sensitivity of potassium flux into red blood cells in the familial pseudohyperkalaemia syndrome, Biochim Biophys Acta 1985, 821:72-78.
11. Wieth J: Paradoxical temperature dependence of sodium and potassium fluxes in human red cells. J Physiol 1970, 207:563-580.
12. Blackstock EJ, Stewart GW: The dependence on external cation of sodium and potassium fluxes across the human red cell membrane at low temperatures. J Physiol 1986, 375:403-420.
13. Mentzer WC, Lam GK, Lubin BH, Greenquist A, Schrier SL, Lande W: Membrane effects of imidoesters in hereditary stomatocytosis. J Supramol Struct 1978, 9:275-288.
14. Stewart GW, Amess JAL, Eber SW, Kingswood C, Lane PA, Smith BD, Mentzer WC: Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol 1996, 93:303-310.
15. Hirsh J, Dacie JV: Persistent post-splenectomy thrombocytosis and thrombo-embolism: a consequence of continuing anaemia. Br J Haematol 1966, 12:44-53.
16. Smith DS, Segel GB: Abnormal erythrocyte endothelial adherence in hereditary stomatocytosis. Blood 1997, 89:3451-3456. The authors have studied three members of a large kindred with dehydrated HS. One member had had splenectomy, but all three had episodes of shortness of breath and chest and abdominal pains that were more pronounced in the splenectomized patient. Adherence of erythrocytes to endothelium was determined through the shear stress required to separate cells from endothelial monolayers with a micropipette. Thrombosis correlated with a higher percentage of adherent cells. The molecular basis for this phenomenon is unknown.
17. Carella M, Stewart G, Ajetunmobi JF, Perrotta S, Grootenboer S, Tchernia G, et al.: Mapping of dehydrated hereditary stomatocytosis (hereditary xerocytosis) locus to chromosome 16 (16q23-qter) by genome wide search. Am J Hum Genet 1998, 63:810-816. This paper describes the localization of the dehydrated HS gene to the long arm of chromosome 16. The linkage analysis was performed in three European families, one of which had 14 affected members. All affected persons presented with pure dehydrated HS. The authors obtained a cumulative LOD score of 6.62 at recombination fraction .00-. They located the gene to a region spanning from the marker D166511 to the telomere (approximately 20 cM). Although this region is wide and lacks candidate genes, the mapping of the dehydrated HS locus is useful in showing that other forms of dehydrated HS, associated with FP or PE, or both, are or are not linked to the same locus.
18. Iolascon A, Stewart G, Ajetunmobi JF, Perrotta S, Delaunay J, Zelante L, et al.: Hereditary xerocytosis and pseudohyperkaliemia map to the same locus [abstract]. Blood 1998, 92(suppl 1):8a. This abstract resolved a puzzling question about dehydrated HS. Once the dehydrated HS gene was mapped, it became possible to establish whether FP mapped to the same locus. The authors studied a Scottish family affected with the typical form of FP. The biochemical data showed a normal reticulocyte count, normal osmotic fragility and mean corpuscular volume, and an increased K+ influx at 5 mM. The OBR K+ influx compared with temperature showed a typical shallow slope in the range of 20°C to 37°C. Linkage analysis confirmed that dehydrated HS and FP mapped to the same locus (LOD score > 3). Although it is not currently possible to rule out the presence of two contiguous genes, some data suggest that one would, rather, be dealing with an example of allelic heterogeneity. Different mutations of the same gene would give rise to different clinical features.
19. Shohet S, Livermore B, Natahn D, Jaffe E: Hereditary hemolytic anemia associated with abnormal membrane lipids: mechanism of accumulation of phosphatidylcholine. Blood 1971, 38:445-456.
20. Ott J: Analysis of Human Linkage, 2nd ed. Baltimore: The Johns Hopkins University Press; 1992.
21. Stewart GW, Hepworth-Jones BE, Keen JN, Dash BCJ, Argent AC, Casimir CM: Isolation of cDNA coding an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes. Blood 1992, 79:1593-1601.
22. Lande WM, Thiemann PVW, Mentzer WC Jr: Missing band 7 membrane protein in two patients with high Na, low K erythrocytes. J Clin Invest 1982, 70:1273-1280.
23. Gallagher PG, Segel G, Marchesi SL, Forget BG: The gene for erythrocyte band 7.2b in hereditary stomatocytosis [abstract]. Blood 1992, 80(suppl 1):276a.
24. Wang D, Turetsky T, Perrine S, Johnson RM, Mentzer WC: Further studies on RBC membrane protein 7.2b deficiency in hereditary stomatocytosis [abstract]. Blood 1992, 80(suppl 1):275a.
25. Canessa CM, Horisberger JD, Rossier BC: Epithelial sodium channel related to proteins involved in neurodegeneration. Nature 1993, 361:467-470.
26. Barnes T, Jin Y, Horvitz H, Ruvkun G, Hekimi S: The Caenorhabditis elegans behavioral gene unc-24 encodes a novel bipartite protein similar to both erythrocyte protein Band 7.2 (stomatin) and nonspecific lipid transfer protein. J Neurochem 1996, 67:46-57.
27. Desveves J, Berman A, Dynon K, La Greca N, Foley M, Tilley L: Human erythrocyte band 7.2 is preferentially labeled by a photoreactive phospholipid. Biochem Biophys Res Commun 1996, 224:108-114.
28. Rajaram S, Sedenskey M, Morgan P: Unc-1: a stomatin homologue controls sensitivity to volatile anesthetics in C. elegans. Proc Natl Acad Sci U S A 1998, 95: 8761-8766. This paper focuses on cloning and sequencing of a new homologue in the nematode C. elegans. The N-terminus is homologous to stomatin; the C-terminus is homologous to the "nonspecific lipid transfer protein." This is the only homologue that gives any clue to biological function.
29. You Z, Gao X, Ho MM, Borthakur D: A stomatin-like protein encoded by the s1p gene of Rhizobium etli is required for nodulation competitiveness on the common bean. Microbiology 1998, 144:2619-2627.
30. Snyers L, Umlauf E, Prohaska R: Oligomeric nature of the integral membrane protein stomatin. J Biol Chem 1998, 273:17221-17226. This paper supplies convincing evidence that stomatin is oligomeric in its native state.
31. Snyers L, Thines-Sempoux D, Prohaska R: Colocalization of (band 7.2b) and actin microfilaments in UAC epithelial cells. Eur J Cell Biol 1997, 73:281-285. This paper provides evidence for association with the cytoskeleton, confirming and expanding on previous studies.
32. Mayer H, Salzer U, Breuss J, Ziegler S, Marcher-Bauer A, Prohaska R: Isolation, molecular characterization, and tissue specific expression of a novel putative G-protein coupled receptor. Biochim Biophys Acta 1998, 1395:301-308. This paper discusses a possible gene for stomatocytosis.
33. Ho MM, Nicolaou A, Argent AC, Stewart GW: Trans-bilayer phospholipid movements in human red blood cells deficient in the 32 kDa band 7.2b membrane protein, "stomatin" [abstract]. Biochem Soc Trans 1997, 25:492S. This paper shows that stomatin is neither the "flipase" nor the "scramblase."