Hereditary spherocytosis and hemochromatosis

Annals of Hematology

Volumn 81, Issue 4, 2002, Pages 202-209

  Brandenberg, J B ^a,b   Biasiutti, F Demarmels ^b   Lutz, H U ^c   Wuillemin, Walter A ^a  

^a Division of Haematology   (Switzerland)

^b UNIVERSITY OF BERN   (Switzerland)

^c ETH ZURICH   (Switzerland)

Author keywords

C282Y; Hereditary hemochromatosis; Hereditary spherocytosis; Iron overload; Splenectomy

Indexed keywords

FERRITIN; HLA A24 ANTIGEN; HLA A3 ANTIGEN; HLA B7 ANTIGEN; IRON;

ADULT; ANEMIA; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CLINICAL EXAMINATION; ERYTHROCYTE; FAMILY; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEMOCHROMATOSIS; HEREDITARY SPHEROCYTOSIS; HETEROZYGOSITY; HLA TYPING; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; IRON STORAGE; MALE; PARENT; PRIORITY JOURNAL; SIBLING; SPLENECTOMY;

ADULT; AGED; CYTOGENETIC ANALYSIS; FAMILY HEALTH; FEMALE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY TESTING; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; SPHEROCYTOSIS, HEREDITARY; SPLENECTOMY;

EID: 0036941693     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-002-0432-0     Document Type: Article

References (33)

1. Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17:332-334
2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13:399-407
3. Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigal E, Bjorkman PJ, Schatzman RC (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Nat Acad Sci 95:1472-1477
4. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, Chauvel B (1996) Haemochromatosis and HLA-H. Nat Genet 14:251-252
5. Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK (1999) HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 130:953-962
6. Himmelmann A, Bortoluzzi L, Jansen S, Fehr J (2000) Häufigkeit der HFE-Genmutationen und Genotyp-Phänotyp-Beziehungen bei Patienten mit hereditärer Hämochromatose in der Schweiz. Schweiz Med Wochenschr 130:1417-1424
7. Lawrence RD (1949) Haemochromatosis in three families and in a woman. Lancet 1:736
8. Weintraub LR, Conrad EM, Crosby WH (1965) Regulation of the intestinal absorption of iron by the rate of erythropoiesis. Br J Haematol 11:432-438
9. Barry M, Scheuer PJ, Sherlock S, Ross CF, Williams R (1968) Hereditary spherocytosis with secondary haemochromatosis. Lancet 2:481-485
10. Berry EM, Miller JP (1973) Hereditary spherocytosis, haemochromatosis, diabetes mellitus, and chondrocalcinosis. Proc R Soc Med 66:9-10
11. Blacklock HA, Meerkin M (1981) Serum ferritin in patients with hereditary spherocytosis. Br J Haematol 49:117-119
12. Edwards CQ, Skolnick MH, Dadone MM, Kushner JP (1982) Iron overload in hereditary spherocytosis: association with HLA-linked hemochromatosis. Am J Hematol 13:101-109
13. Fargion S, Cappellini MD, Piperno A, Panajotopoulos N, Ronchi G, Fiorelli G (1986) Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload. Am J Clin Pathol 86:645-649
14. Lopez DE, Kohan M, Ferreno D, Raffa MP, Prytyka A (1997) Hemochromatosis associated with hereditary spherocytosis. Acta Gastroenterol Latinoam 27:267-270
15. Mohler DN, Wheby MS (1986) Case report: hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis. Am J Med Sci 292: 320-324
16. O'Mahony S, O'Brien PA, Whelton MJ (1987) Genetic haemochromatosis and congenital spherocytosis. Lancet 1:282
17. Takegoshi T, Nishino T, Tanino M, Nonokura A, Otha G (1984) An autopsy case of hemochromatosis and hepatoma combined with hereditary spherocytosis. Jpn J Med 23:48-52
18. Wallerstein RO, Robbins SL (1953) Hemochromatosis after prolonged oral iron therapy in a patient with chronic hemolytic anemia. Am J Med 14:256-260
19. Wilson JD, Scott PJ, North JDK (1976) Hemochromatosis in association with hereditary spherocytosis. Arch Intern Med 120:701-707
20. Zimelman AP, Miller A (1980) Primary hemochromatosis with hereditary spherocytosis. Arch Intern Med 140:983-984
21. Merryweather-Clarke AT, Liu YT, Shearman JD, Robson KJH (1997) A rapid non-invasive method for the detection of the haemochromatosis C282Y mutation. Br J Haematol 99: 460-463
22. Beutler E, West C, Blume KG (1976) The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328-333
23. Lutz HU, Stammler P, Fasler S, Ingold M, Fehr J (1992) Density separation of human red blood cells on self forming Percoll gradients: correlation with cell age. Biochim Biophys Acta 1116:1-10
24. Fairbanks G, Steck TL, Wallach DFH (1971) Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 10:2607-2617
25. Fasler S, Skvaril F, Lutz HU (1988) Electrophoretic properties of human IgG and its subclasses on sodium dodecyl-sulfate-polyacrylamide gel electrophoresis and immunoblots. Anal Biochem 174:593-600
26. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP (1996) Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 335: 1799-1805
27. Pootrakul P, Rugkiatsakul R, Wasi P (1980) Increased transferrin iron saturation in splenectomized thalassemic patients. Br J Haematol 46:143-145
28. Pootrakul P, Vongsmasa V, La-ongpanich P, Wasi P (1981) Serum ferritin levels in thalassaemias and the effect of splenectomy. Acta Haematol 66:244-250
29. Piperno A, Taddei MT, Petrella G, Fiorelli G (1984) Iron overload in hereditary spherocytosis. Haematologica 69:90-91
30. Iolascon A, Miraglia del Giudice E, Perrotta S, Allooisio N, Morle L, Delaunay J (1998) Hereditary spherocytosis: from clinical to molecular defects. Haematologica 83:240-257
31. Wichterle H, Hanspal M, Palek J, Jarolim P (1996) Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest 98:2300-2307
32. Wilmotte RJ, Marechal J, Morle L, Baklouti F, Philippe N, Kastally R, Kotula L, Delaunay J, Alloisio N (1993) Low expression allele alpha LELY of red cell spectrin is associated with mutation in exon 40 (alpha V/41polymorphism) and intron 45 and with partial skipping of exon 46. J Clin Invest 91:2091-2096
33. Hanspal M, Palek J (1987) Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors. J Cell Biol 105:1417-1424