Hereditary spherocytosis: Identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland

Annals of Hematology

Volumn 83, Issue 1, 2004, Pages 28-33

  Boguslawska D M ^b   Heger, E ^b   Chorzalska, A ^a   Nierzwicka, M ^b   Holojda J ^c   Swiderska A ^d   Straburzynska A ^e   Pazdzior G ^f   Langner, M ^f   Sikorski, A F ^a,b  

^a UNIVERSITY OF WROC AW   (Poland)

^b UNIVERSITY OF ZIELONA GÓRA   (Poland)

^c Regional Hospital   (Poland)

^d MSWiA Infirmary   (Poland)

^e Regional Hospital   (Poland)

^f WROCLAW UNIVERSITY OF TECHNOLOGY   (Poland)

Author keywords

Ankyrin and anion exchanger protein deficiency; Haemolytic anaemia; Hereditary spherocytosis

Indexed keywords

ANKYRIN; ERYTHROCYTE BAND 3 PROTEIN;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; DATA ANALYSIS; ERYTHROCYTE DISORDER; GENETIC SCREENING; HEMOLYSIS; HEREDITARY SPHEROCYTOSIS; HUMAN; HUMAN CELL; OSMOSIS; POLAND; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RELIABILITY; STATISTICAL SIGNIFICANCE; STUDENT T TEST;

ADOLESCENT; ADULT; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ANKYRINS; BLOOD PROTEIN ELECTROPHORESIS; CHILD; ERYTHROCYTE MEMBRANE; ERYTHROCYTES; FAMILY; HEMOLYSIS; HUMANS; MIDDLE AGED; POLAND; SPHEROCYTOSIS, HEREDITARY;

EID: 9144274341     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-003-0739-5     Document Type: Article

References (18)

1. Bogusławska DM, Heger E, Chorzalska A, Nierzwicka M, Hołojda J, Świderska A, Straburzyńska A, Chmura A, Langner M, Sikorski AF (2002) Identification of several families with hereditary spherocytosis in a population from South-West Poland. Cell Mol Biol Lett 7[Suppl]: 174
2. Delaunay J, Alloisio N, Morle L (1996) Molecular genetics of hereditary spherocytosis. Cell Mol Biol Lett 1:49-65
3. Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M (1997) Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Br J Haematol 98:32-40
4. Dodge JT, Mitchell C, Hanahan DJ (1963) The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocyte membrane. Arch Biochem 100:119-130
5. Eber SW, Armbrust R, Schroter W (1990) Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 117:409-416
6. Eber SW, Gonzales JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genet 13:214-218
7. Gallagher PG, Sabatino DE, Basseres DS, Nilson DM, Wong C, Cline AP, Garrett LJ, Bodine DM (2001) Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. J Biol Chem 276:41683-41689
8. Inoue T, Kanzaki A, Yawata A, Wada H, Okamoto N, Takahashi M, Sugihara T, Yamada O, Yawata Y (1994) Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population. Int J Hematol 60:227-238
9. Jarolim P, Rubin HL, Brabec V, Palek J (1995) A nonsense mutation 1669Glu->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J Clin Invest 95:941-947
10. Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, Snyder LM, Chrobak L, Melrose WD, Brabec V, Palek J (1996) Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 88:4366-4374
11. Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacterophage T4. Nature 227:680-685
12. Lanciotti M, Perutelli P, Valetto A, Di Martino D, Mori PG (1997) Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. Haematologica 82:460-462
13. Leite RC, Basseres DS, Ferreira JS, Alberto FL, Costa FF, Saad ST (2000) Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations. Hum Mutat 16:529
14. Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S (1994) Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol 88:52-55
15. Miraglia del Giudice E, Francese M, Nobili B, Morle L, Cutillo S, DElaunay J, Perrotta S (1998) High frequency of de novo mutations in ankyrin gene (ANK1) in children spherocytosis. J Pediatr 132:117-120
16. Miraglia del Giudice E, Nobili B, Francese M, D'Urso L, Iolascon A, Eber S, Perrotta S (2001) Clinical and molecular evaluation of non-dominant hereditary spherocytosis. Br J Haematol 112:42-47
17. Paździor G, Langner M, Chmura A, Bogusławska D, Heger E, Chorzalska A, Sikorski AF (2003) Kinetics of haemolysis of spherocytic erythrocytes. Cell Mol Biol Lett 8:639-648
18. Tse WT, Lux SE (1999) Red blood cell membrane disorders. Brit J Haematol 104:2-13