Selected bibliography


Chu X, Thompson D, Yee LJ, Sung LA (2000) Genomic organization of mouse and human erythrocyte tropomodulin genes encoding the pointed end capping protein for the actin filaments. Gene 256:271-81.

Davies KA, Lux SE (1989) Hereditary disorders of the red cell membrane skeleton. Trends in Genetics 5:222-7.

Delaunay J (2002) Molecular basis of red cell membrane disorders. Acta Haematologica 108:210-8.

Delaunay J, Dhermy D (1993) Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function. Seminars in Hematology 30:21-33.

Elgsaeter A, Stokke BT, Mikkelsen A, Branton D (1986) The molecular basis of erythrocyte shape. Science 234:1217-23.

Gilligan DM, Bennett V (1993) The junctional complex of the membrane skeleton. Seminars in Hematology 30: 74-83.

McKusick VA (1973) Phenotypic diversity of genetic disease resulting from allelic series. American Journal of Human Genetics 25: 446-56.

Palek J, Jarolin P (1993) Clinical expression and laboratory detection of red blood cell membrane protein mutations. Seminars in Hematology 30:249-83.

Pawloski JR, Hess DT, Stamler JS (2001) Export by red blood cells of nitric oxide bioactivity. Nature409: 622-6.

Tanner, MJA (1993) Molecular and cellular biology of the erythrocyte anion exchanger (AE1) Seminars in Hematology 30: 34-57.

Tse WT, Lux SE (1999) Red cell membrane disorders. British Journal of Haematology 104:2-13.

Hereditary spherocytosis

Agre P, Asimos A, Casella JF, McMillan C (1986) Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. New England Journal of Medicine 315:1579-83.

Barry M, Scheuer PJ, Sherlock S, Ross CF, Williams R (1968) Hereditary spherocytosis with secondary haemochromatosis. Lancet ii: 481-5.

Bolton-Maggs PHB, Stevens RF, Dodd NJ et al. Guidelines for the diagnosis and management of hereditary spherocytosis. Submitted.

Bruce LJ, Ghosh S, King MJ et al. (2002) Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and band 3 complex. Blood 100: 187885.

Delhommeau F, Cynober T, Schischmanoff PO et al. (2000) Natural history of hereditary spherocytosis during the first year of life Blood 95: 393-7.

Dhermy D, Galand C, Bournier O et al. (1997) Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. British Journal of Haematology 98: 32-40.

Eber SW, Gonzalez JM, Lux ML etal. (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics 13:214-18.

Gallagher PG, Forget BG (1998) Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells, Molecules and Diseases 24: 539-43.

Gallagher PG, Ferreira JDS, Costa FF et al. (2000) A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal of Haematology 111: 1190-3.

Hanspal M, Yoon S-H, Yu H et al. (1991) Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin. Blood 77: 165-73.

Ideguchi H, Nishimura J, Nawata H etal. (1990) Genetic defect of erythrocyte band 4.2 protein associated with hereditary spherocytosis. British Journal of Haematology 74: 347-53.

Iwamoto S, Kajii E, Omi T etal. (1993) Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency. European Journal of Haematology 50:286-91.

Jacob HS, Jandl JH (1964) Increased cell membrane permeability in the pathogenesis of hereditary spherocytosis. Journal of Clinical Investigation 43:1704-20.

King MJ, Behrens J, Rogers C et al. (2000) Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. British Journal of Haematology 111: 92433.

Korsgren C, Lawler J, Lambert S etal. (1990) Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2. Proceedings of the National Academy of Sciences of the USA87: 613-17.

Lefrere JJ, Courouce A-M, Girot R etal. (1986) Six cases of hereditary spherocytosis revealed by human parvovirus infection. British Journal of Haematology 62: 653-8.

Miraglia del Giudice E, Perrotta S, Pinto L et al. (1992) Hereditary spherocytosis characterized by increased spectrin/band 3 ratio. British Journal of Haematology 80:133-6.

Miraglia del Giudice E, Francese M, Nobili B et al. (1998) High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. Journal of Pediatrics 132:117-20.

Miraglia del Giudice E, Perrotta S, Nobili B etal. (1999) Coinherit-ance of Gilbert syndrome increases risk for developing gallstones in patients with hereditary spherocytosis. Blood 94:2259-62.

Miraglia del Giudice E, Nobili B, Francese M etal. (2001) Clinical and molecular evaluation of non-dominant hereditary spherocytosis. British Journal of Haematology 112:42-7.

Okamoto N, Wada Y, Nakamura Y et al. (1995) Hereditary sphero-cytic anemia with deletion of the short arm of chromosome 8. American Journal of Medical Genetics 58:225-9.

Reinhart WH, Wyss EJ, Arnold D et al. (1994) Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. British Journal of Haematology 86:147-55.

Rybicki AC, Heath R, Wolf JL et al. (1988) Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia: evidence for a role ofprotein 4.2 in stabilizing ankyrin on the membrane. Journal of Clinical Investigation 81: 893-901.


Anon (1985) Splenectomy - a long term risk of infection. Lancet ii: 928-9 [Editorial].

Anon (1998) The place of pneumococcal vaccination. Drug and Therapeutics Bulletin 36: 73-6 [Editorial].

McMullin M, Johnston G (1993) Long term management of patients after splenectomy. British Medical Journal 307: 1371-2 [Editorial].

Working Party ofthe British Committee for Standards in Haematology Clinical Haematology Work Force (1996) Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. British Medical Journal 312:430-4.

Hereditary elliptocytosis

Gallagher PG, Forget BG (1996) Hematological^ important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells and Molecular Diseases 22:254-8.

Glele-Kakai C, Garbarz M, Lecomte MC et al. (1996) Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin. British Journal of Haematology 95: 57-66.

Marchesi SL, Letsinger JT, Speicher DW et al. (1987) Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. Journal of Clinical Investigation 80:191-8.

Randon J, Boulanger L, Marechal J et al. (1994) A variant of spectrin low-expression allele alpha-LELY carrying a hereditary elliptocytosis mutation in codon 28. British Journal of Haematology 88: 534-40.

Hereditary pyropoikilocytosis

Agre P, Orringer EP, Chui DHK et al. (1981) A molecular defect in two families with hemolytic poikilocytic anemia: reduction of high affinity membrane binding sites for ankyrin. Journal of Clinical Investigation 68:1566-76.

Gallagher PG, Petruzzi MJ, Weed SA etal. (1997) Mutation of a highly conserved residue of beta-1 spectrin associated with fatal and near-fatal neonatal hemolytic anemia. Journal of Clinical Investigation 99: 267-77.

Goel VK, Li X, Chen H et al. (2003) Band 3 is a host receptor binding merozoite surface protein 1 during the Plasmodium falciparum invasion of erythrocytes. Proceedings of the National Academy of Sciences ofthe USA 100: 5164-9.

Liu S-C, Palek J, Prchal J etal. (1981) Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. Journal of Clinical Investigation 68: 597-605.

Hereditary stomatocytosis, pseudohyperkalaemia

Delaunay J, Stewart G, Iolascon A (1999) Hereditary dehydrated and overhydrated stomatocytosis: recent advances. Current Opinion in Hematology 6:110-14.

Grootenboer S, Schischmanoff PO, Cynober T etal. (1998) A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. British Journal of Haematology 103: 383-6.

Grootenboer S, Schischmanoff PO, Laurendeau I et al. (2000) Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. Blood 96:2599-605.

Stewart GW, Turner EJ (1999) The hereditary stomatocytoses and allied disorders: congenital disorders of erythrocyte membrane permeability to Na and K. Bailliere's Best Practice in Clinical Haematology 12: 707-27.

Stewart GW, Corrall RJ, Fyffe JA etal. (1979) Familial pseudohyper-kalaemia. A new syndrome. Lancet ii: 175-7.

Stewart GW, Amess JA, Eber SW etal. (1996) Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. British Journal of Haematology 96: 303-10.

South-East Asian ovalocytosis and malaria

Goel VK, Li X, Chen H etal. (2003) Band 3 is a host receptor binding merozoite surface protein 1 during the Plasmodium falciparum invasion of erythrocytes. Proceedings of the National Academy of Sciences of the USA 100: 5164-9.

Hadley T, Saul A, Lamont G etal. (1983) Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesii and Plasmodium falciparum malaria parasites in vitro. Journal of Clinical Investigation 71: 780-2.

Liu S-C, Zhai S, Palek J et al. (1990) Molecular defect of the band 3 protein in South-East Asian ovalocytosis. New England Journal of Medicine 323:1530-8.


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