Next »
Blood Reviews
Volume 21, Issue 1
, Pages 1-20
, January 2007
The molecular basis of hereditary red cell membrane disorders
References
- Delaunay J, Cartron JP. Disorders of the red cell membrane. European School of Haematology (2006, in press) (Review article).
- The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995;333:1171–1175
- A novel MHC I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics. 1996;13:399–408
- . Hematologically important mutations : band 3 and protein 4.2 variants in hereditary spherocytosis. Blood Cells Mol Dis. 1997;23:417–421(Review article)
- . Hematologically important mutations : spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis. 1998;24:539–543(Review article)
- . Hereditary elliptocytosis : spectrin and protein 4.1R. Seminars in Hematology. 2004;41:142–164(Review article)
- . Lipid asymmetry in membranes. Ann Rev Biochem. 1979;48:47–71(Review article)
- . ATP-dependent asymmetric distribution of spin-labeled phospholipids in the erythrocyte membrane : relation to shape changes. Proc Natl Acad Sci U S A. 1984;81:3751–3755
- . Molecular cloning of human plasma membrane phospholipid scramblase. J Biol Chem. 1997;272:18240–18244
- . Structure and function of sphingilipid-rich membrane rafts. J Biol Chem. 2000;275:17221–17224(Review article)
- . Caspase 3 regulates phosphatidylserine externalization and phagocytosis of oxidatively stressed erythrocytes. FEBS Lett. 2002;513:184–188
- Caspase 3-mediated proteolysis of the N-terminal cytoplasmic domain of the human erythroid anion exchanger 1 (band 3). J Biol Chem. 2003;278:52551–52558
- . Ankyrin gene mutations in japanese patients with hereditary spherocytosis. Int J Hematol. 2001;73:54–63
- Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood. 2001;97:399–403
- . Hereditary spherocytosis-defects in proteins that connect the membrane to the lipid bilayer. Seminars in Hematology. 2004;41:118–141
- Different impacts of alleles αLEPRA and αLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. Br J Haematol. 2004;127:118–122
- . Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest. 1996;98:2300–2307
- . Genetic disorders of the red cell membrane. In: Jameson JL editors. ‘Principles of Molecular Medicine’. Totowa, NJ, USA: Humana Press Inc.; 1998;p. 191–195
- Coinheritance of two α-spectrin gene defects in a recessive spherocytosis family. Clin Lab Haem. 2000;22:329–336
- An amino acid substitution in α-spectrin commonly inherited with nondominant hereditary spherocytosis. Am J Hematol. 1997;54:233–241
- . Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythoid α-spectrin gene. The Hematology Journal. 2000;1:235–242
- . Mutations in the murine erythroid α-spectrin gene alter mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton. Blood. 2003;101:325–330
- . The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of β-spectrin. Proc Natl Acad Sci USA. 1994;91:10099–10103
- . Zebrafish as a model of human hematologic disorders. Curr Opin Hematol. 2004;11:255–261
- Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid beta-spectrin structure, and function in red cell morphogenesis and membrane stability. Development. 2000;127:5123–5132
- Two distinct truncated variants of ankyrin associated with spherocytosis. Am J Hematol. 1998;58:36–41
- . Spectrin deficient inherited hemolytic anemias in the mouse : characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell. 1994;37:721–729
- Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol. 1991;114:1233–1241
- Modulation of clinical expression and and 3 deficiency in hereditary spherocytosis. Blood. 1997;90:414–420
- Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat Genet. 2005;37:1258–1263
- Near lethal hereditary spherocytosis and distal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602–1604
- Evidence for a band 3-based membrane macrocomplex : A potential gas exchange metabolon. Blood. 2003;101:4180–4188
- The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function. Blood. 2005;106:4359–4366
- Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency. Blood. 2004;103:3233–3240
- . Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nature Genet. 1996;14:227–230
- Anion exchanger 1 (band 3) is required to prevent erythrocyte surface loss but not to form the membrane skeleton. Cell. 1996;86:917–927
- Targeted inactivation of murine band 3 (AE1) gene produces a hypercoagulable state causing widespread thrombosis in vivo. Blood. 1998;92:1785–1792
- Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest. 1996;97:1804–1817
- Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. Nat Genet. 2003;34:59–64
- Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J Clin Invest. 1997;100:1693–1707
- Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3)
exchanger. J Biol Chem. 1998;273:6380–6388 - . A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis. Pediatrics. 2003;112:1361–1367
- . Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. Nephrol Dial Transplant. 1997;9:1869–1873
- Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). Haematologica. 2000;85:819–824
- Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. Blood. 2002;100:1878–1885
- Evidence that CD47 and protein 4.2 participate in the linkage of the Rh membrane complex to the red cell skeleton. Blood. 2003;101:338–344
- Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice. J Clin Invest. 1999;103:1527–1537
- . Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. Proc Natl Acad Sci U S A. 1999;96:10717–10722
- . Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. Blood. 2000;95:3978–3985
- Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood. 1994;84:303–308
- . Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia. Blood. 1997;89:4584–4590
- SpαV/41 : a common spectrin polymorphism at the αIV-αV domain junction. Relevance to the expression level of hereditary elliptocytosis due to α-spectrin variants located in trans. J Clin Invest. 1991;87:2169–2177
- Low expression allele αLELY of red cell spectrin is associated with mutations in exon 40 (αV/41 polymorphism) and intron 45 and with partial skipping of exon 46. J Clin Invest. 1993;91:2091–2096
- Ethnic distribution of allele αLELY, a low-expression allele of red-cell spectrin α-gene. Br J Haematol. 1995;90:553–556
- . A congenital hemolytic anemia with thermal sensitivity of the erythrocyte membrane. Br J Haematol. 1975;29:537–543
- A common type of the spectrin alpha I 46–50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. J Clin Invest. 1992;89:892–898
- . Spectrin St Louis and the αLELY allele. Blood. 1994;84:1686–1687(Correspondence)
- . A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood. 2005;106:4367–4369
- Defective spectrin integrity and neonatal thrombosis in the first mouse model for severe hereditary elliptocytosis. Blood. 2001;97:543–550
- Recurrent fatal hydrops foetalis associated with a nucleotide substitution in the erythrocyte β-spectrin gene. J Clin Invest. 1995;95:1174–1182
- Coinheritance of α- and β-spectrin gene mutations in a case of hereditary elliptocytosis. Blood. 1998;92:4481–4482(Correspondence)
- Diffusion of a particular 4.1 (-) hereditary elliptosis allele in the French Northern Alps. J Biosoc Sci. 1993;25:239–247
- . Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency. New Engl J Med. 1986;315:680–685
- . Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. J Clin Invest. 1990;86:524–530
- Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton. J Clin Invest. 1994;94:1651–1656
- A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing. Blood. 1998;91:4362–4367
- A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon. Hum Mutation. 1999;14:145–155
- Elliptocytosis in patients with C-terminal domain of protein 4.1 correlates with encoded messenger RNA levels rather than with alterations in primary protein structure. Blood. 2000;95:1834–1841
- . Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene. J Clin Invest. 1992;90:1713–1717
- Gerbich reactivity in 4.1 (-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency. Br J Haematol. 1987;65:43–50
- Evidence that red blood cell protein p55 may participate in the skeleton-membrane linkage that involves protein 4.1 and glycophorin C. Blood. 1993;82:1323–1327
- Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. J Clin Invest. 1999;103:331–340
- Characterization of zebrafish merlot/chablis as non-mammalian vertebrate models for severe congenital anemia due to protein 4.1 deficiency. Development. 2002;129:4359–4370
- . Familial pseudohyperkalaemia. A new syndrome. The Lancet. 1979;2(8135):175–177
- . Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. Br J Haematol. 2002;117:212–214
- A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. Eur J Hum Genet. 2004;12:1073–1076
- Familial pseudohyperkalaemia Chiswick : a novel congenital thermotropic variant of K and Na transport across the human red cell membrane. Br J Haematol. 2001;112:469–474
- Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). Blood. 1999;93:3120–3123
- . Hemolytic disease due to membrane ion channel disorders. Curr Opinion in Hematol. 2004;11:244–250(Review article)
- . Stomatocytosis : a hereditary red cell anomaly associated with haemolytic anaemia. Br J Haematol. 1961;7:303–314
- Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol. 1996;93:303–310
- Chronic thromboembolic pulmonary hypertension following splenectomy in a patient with dehydrated hereditary stomatocytosis. Hemoglobin. 2003;27:139–147
- Syfuss PY, Ciupea A, Brahimi S, et al. Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. Clin Lab Haematol, in press.
- . Xerocytosis with concomitant intrauterine ascites : first description and therapeutic approach. Blood. 1996;87:5392–5393(Correspondence)
- A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. Brit J Haematol. 1998;103:383–386
- Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia and perinatal edema maps to 16q23–q24. Blood. 2000;96:2599–2605
- Dehydrated hereditary stomatocytosis: a cause of prenatal edema. Prenat Diagn. 2001;21:1114–1118
- Nearly lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis upon two consecutive pregnancies. Prenat Diagn. 2003;23:380–384
- Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis) : mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet. 1998;63:810–816
- Four new cases of stomatin-deficient hereditary stomatocytosis syndrome. Association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction. Br J Haematol. 2004;125:796–803
- . Stomatin. Int J Biochem Cell Biol. 1997;29:271–274(Review article)
- . Stomatin is mis-trafficked in the erythrocytes of overhydrated hereditary stomatocytosis, and is absent from normal primitive yolk sac-derived erythrocytes. Br J Haematol. 2005;131:265–277
- Paltrinieri S, Comazzi S, Ceciliani F, Prohaska R, Bonfanti U. Stomatocytosis of Standard Schnauzers is not associated with stomatin deficiency. Vet J 2005; Sep 13; [Epub ahead of print].
- Stomatocytosis is absent in ‘stomatin’-deficient murine red blood cells. Blood. 1999;93:2404–2410
- . Missing band 7 membrane protein in two patients with high Na, low K erythrocytes. J Clin Invest. 1982;70:1273–1280
- Two British families with variants on the ‘cryohyrocytosis’ form of hereditary stomatocytosis. Brit J Haematol. 1999;105:1055–1065
- Two further British families with the ‘cryohydrocytosis’ form of hereditary stomatocytosis. Br J Haematol. 2001;113:932–937
- . Erythroid band 3 variants and disease. Baillieres Best Pract Res Clin Haematol. 1999;12:637–654(Review article)
- South-east Asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak : implications for in vitro studies on stored SAO red cells. Biochim Biophys Acta. 1999;1416:258–270
- . Stomatocytes, haemolytic anaemia and abdominal pains in Mediterranean migrants. Med J Aust. 1969;2:1087–1091
- . Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest. 1974;53:1033–1043
- Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol. 2005;130:297–309
PII: S0268-960X(06)00025-7
doi: 10.1016/j.blre.2006.03.005
© 2006 Elsevier Ltd. All rights reserved.
Next »
Blood Reviews
Volume 21, Issue 1
, Pages 1-20
, January 2007
