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Hereditary spherocytosis Review

Yıl 2009, Cilt: 44 Sayı: 11, 27 - 34, 01.06.2009

Öz

Hereditary spherocytosis HS is a relatively common hemolytic anemia; most affected individuals have mild or only moderate haemolysis It is a heterogeneous group of disorders with regard to clinical severity protein defects and mode of inheritance There is usually a family history and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history Mild HS can be managed without folate supplementation and does not require splenectomy Moderately or severely affected individuals are likely to benefit from splenectomy which should be performed after the age of 5 6 years Turk Arch Ped 2009; 44 Suppl: 27 34 Key words: Anemia diagnosis hereditary spherocytosis treatment

Kaynakça

  • Becker PS, Luk SE. Disorders of the red cell membrane. In: Hematology of Infancy and Childhood, edited by Nathan D, Oski F (eds). Philadelphia: WB Saunders, 1993: 529-605.
  • Gallagher PG, Forget BG. Hereditary spherocytosis, elliptocyto- sis, and related disorders. In: Williams Hematology, Beutler, E. (ed). Sixth ed McGraw-Hill, 2001: 503-18.
  • Perrotta S, Gallanger PG, Mohandas N. Hereditary spherocyto- sis. Lancet 2008; 372: 1411-26.
  • An X, Mohandas N. Disorders of red cell membrane. Br J Haematol 2004; 126: 455-74.
  • Bolton-Maggs PHB, Stevens RF, Dodd NJ, et al. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol 2008;141: 367-75.
  • Tse WT, Lux SE. Red blood cell membrane disorders. Br J Haematol 1999; 104:2.
  • Dacie J.The life span of the red blood cell and circumstances of its premature death. In: Blood, Pure and Eloquent, M Wintrobe: New York (ed). McGraw-Hill: 1980: 211.
  • Palek J. Jarolim P. Clinical expression and laboratory detection of red blood cell membrane protein mutation. Seminars in Hematology 1993; 30: 249-83.
  • Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Human mutation 2003; 21: 577-81.
  • Miraglia del Giudice E, Francese M, Nobili B, et al. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. J Pediatr 1998; 132: 117-20.
  • Miraglia del Giudice E, Lombardi C, Francese M, et al. S. Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin defi- ciency. Br J Haematol 1998; 101: 251-4.
  • IolasconA, Miraglia del Giudice E, Perrotta S, Alloision N, Morle L, Delunay J. Hereditary spherocytosis: from clinical to molecular defects. Haematologia 1998; 83: 240-57.
  • Palek J, Lux S. Red cell membrane skeletal defects in hereditary and acquired hemolytic anemias. Seminars in Hematology 1983; 20: 189-224.
  • Hassoun H, Palek J. Hereditary spherocytosis: a review of the clinical and molecular aspects of disease. Blood Reviews 1996; 10: 129-47.
  • Eber SW, Armbrust R, Schröter W. Variable clinical severity of here- ditary spherocytosis: relation to erythrocyte spectrin concentration, osmotic fragility and autohemolysis. J Pediatr 1990;117: 409-16.
  • Friedman EW, Williams JC, Van Hook L. Hereditary spherocyto- sis in elderly. Am J Med 1988; 84: 513-6.
  • Gallagher PG, Forget BG, Lux SE. Disorders of the erythrocyte membrane. In: Hematology of Infancy and Childhood. Nathan D, Oski F (eds). 5th eedit. Philadelphia Saunders 1998: 544-664.
  • Delaunay J. Genetic disorders of the red cell membrane. Crit Rev Oncol Hematol 1995; 19: 79-110.
  • Delaunay J, Alloison N, Morle L, et al. Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. Annals of Genetics 1996; 39: 209-21.
  • Lux SE, Palek J. Disorders of the red cell membrane. In: Blood Principles and Practice of Hematology. Handin RI, Lux SE, Stossel TP (eds). Philadephia: Lippincott 1995: 1701-818.
  • Agre P, Casella JF, Zinkham WH, McMillan C, Bennett V. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 1985: 314-80.
  • Inoue T, Kanzaki A, Yawata A, et al. Uniquely higher incidence of isolated or combined deficiency of band3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary sphero- cytosis in the Japanese population. Int J Hematol 1994; 60: 227-38.
  • Jarolim P, Murray JL, Rubin H, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 defi- ciency. Blood 1996; 88: 4266-374.
  • De FranceschiL, Olivieri O, Miraglia del Giudice E, et al. Membrane cation and anion transport activities in erythrocyte of hereditary spherocytosis: Effects of different membrane protein defects. Am J Hematol 1997; 55: 121.
  • Weiss L, Tavssoli M. Anatomical hazards to the passage of ery- throcytes through the spleen. Semin Hematol 1970;7:372.
  • Delhommeau F, Cynober T, Schitchmanoff PO, et al. Natural his- tory of hereditary spherocytosis during the first year of life. Blood 2000; 95: 393-7.
  • Schröter W, Kahsnitz E. Diagnosis of hereditary spherocytosis in newborn infants. J Pediatr 1983; 103: 460.
  • Burman D. Congenital spherocytosis in infancy. Arch Dis Child 1958, 33: 335.
  • Trucco JI, Brown AK. Neonatal manifestations of hereditary spherocytosis. Am J Dis Child 1967; 113: 263
  • Agre P, Asimos A, Casella JF, McMillan C. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Eng J Med 1986; 315: 1579-83.
  • Gehlbach SH, Cooper BA. Haemolytic anaemia in infectious mononucleosis due to inapperant congenital spherocytosis. Scand J Haematol 1970; 7: 141-4.
  • Tchernia G, Delhommeau F, Perrotta S, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J 2000; 1: 146-52
  • Celkan T, Karaman S, Apak H, Özkan A, Yüksel Soycan L, Yıldız İ. Herediter sferositozlu süt çocuklarında rekombinan eritropoetin tedavisi. Türk Pediatri Arşivi 2004; 39: 125-8.
  • Diamond LK. Indications for splenectomy in childhood: Results in fifty-two operated cases. Am J Surg 1938; 39: 400.
  • Brown KE. Haematological consequences of parvovirus B19 infec- tion. Baillieres Best Pract Res Clin Haematol 2000; 13: 245-59.
  • Murphy PT, O’Donnell JR. B 19 parvovirus infection causing aplastic crisis in 3 out of 5 family members with hereditary sphe- rocytosis. Ir J Med Sci 1990, 159: 182-4.
  • Brown KE, Young NS. Parvovirus B19 in human disease. Annu Rev Med 1997; 48: 59.
  • Rosenblatt DS, Hoffbrand AV. Megaloblastic anemia and disor- ders of cobalamin and folate metabolism. In: Pediatric Hematology (ed. By Lilleyman J, S, Hann I, M, Blanchette, V, S. London: Churchill Livingstone 1999: 167-84.
  • Bates G, Brown C. Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis). Gastroenterology 1952; 21: 104.
  • Rutkow IM. Twenty years of splenectomy for hereditary spherocy- tosis. Archives of Surgery 1981; 116: 306-8.
  • Pinto L, Iolascon A, Miraglia del Giudice E, Materese MR, Nobili B, Perrotta S. The Italian survey on hereditary spherocytosis. International Journal of Pediatric Hematology and Oncology 1995; 2: 43-7.
  • Roper D, Layton M, Lewis SM. Investigation of hereditary hemolytic anemias: Membrane and enzyme abnormalities. In Dacie and Lewis practical Hematology. 9thed. Lewis SM, Bain BJ, Bates I (ed) Churchill Livingstone 2001: 167-95.
  • King MJ, Behrens J, Rogers C, et al. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol 2000; 111: 924-33.
  • Canbolat Aylin. Kalıtsal sferositozlu hastalarımızın değerlendiril- mesi ve eritrosit zar protein eksikliğinin araştırılması. Tez araştır- maları, Cerrahpaşa Tıp Fakültesi. İstanbul 2006.
  • Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S. Erythrocyte membrane protein alterations underlying clinical hetero- geneity in hereditary spherocytosis. Br J Haematol 1994; 88: 52-5.
  • Saad ST, Costa FF, Vicentim DL, Salles Ts, Dilmara L. Vicentim, Pranke. PH. Red cell membrane abnormalities in hereditary spherocytosis in Brazil. Br J Haematol 1994; 88: 295-9.
  • Tshilolo L, Kagambega F, Sztern B, Vertongen F, Gulbis B. Hereditary spherocytosis. one year study of erythrocyte membrane proteins. Rev Med Brux 1998; 19: 417-23.
  • Davies JM, Barnes R, Milligan D. Update of guidelines for the pre- vention and treatment of infection in patients with an absent or dysfunctional spleen. Clinical Medicine: Journal of the Royal College of Physicians of London 2002; 2: 440-3.
  • Chapman RG, McDonald LL. Red cell life span after splenectomy in hereditary spherocytosis. J Clin Inves 1968; 47: 2263-7.
  • Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. In Pediatric Clinics North America. Coppes MJ, Ware RE (eds). WB Philadelphia Saunders company 2008; 55: 503-19
  • Singer DB. Postsplenectomy sepsis. Perspect Pediatr Pathol 1973; 1: 285-311.

Kalıtsal sferositoz Derleme

Yıl 2009, Cilt: 44 Sayı: 11, 27 - 34, 01.06.2009

Öz

Kalıtsal sferositoz KS oldukça sık rastlanılan bir hemolitik anemidir etkilenen bireylerde hafif veya orta derece bir hemoliz vardır Klinik ağırlığı eksik olan protein ve kalıtımı açısından birbirinden farklı seyir görülebilir Genellikle aile öyküsü alınır klinik ve laboratuvar bulguları da tipik olduğu için çoğunlukla ileri tetkike gereksinim duyulmadan tanı konulur Aile öyküsü alınmayan ve atipik seyreden olgularda eritrosit zar bozukluğunu belirlemek için eritrosit zar proteinlerinin ölçümü gerekebilir Hafif seyirli KS’de splenektomi ve folat yerine koyma tedavisine gerek olmaz Orta ve ağır klinik şekillerinde etkilenen bireyler 5 6 yaş sonrasında yapılması önerilen splenektomiden fayda görürler nbsp; Türk Ped Arş 2009; 44 Özel Sayı: 27 34 Anahtar kelimeler: Anemi herediter sferositoz tanı tedavi

Kaynakça

  • Becker PS, Luk SE. Disorders of the red cell membrane. In: Hematology of Infancy and Childhood, edited by Nathan D, Oski F (eds). Philadelphia: WB Saunders, 1993: 529-605.
  • Gallagher PG, Forget BG. Hereditary spherocytosis, elliptocyto- sis, and related disorders. In: Williams Hematology, Beutler, E. (ed). Sixth ed McGraw-Hill, 2001: 503-18.
  • Perrotta S, Gallanger PG, Mohandas N. Hereditary spherocyto- sis. Lancet 2008; 372: 1411-26.
  • An X, Mohandas N. Disorders of red cell membrane. Br J Haematol 2004; 126: 455-74.
  • Bolton-Maggs PHB, Stevens RF, Dodd NJ, et al. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol 2008;141: 367-75.
  • Tse WT, Lux SE. Red blood cell membrane disorders. Br J Haematol 1999; 104:2.
  • Dacie J.The life span of the red blood cell and circumstances of its premature death. In: Blood, Pure and Eloquent, M Wintrobe: New York (ed). McGraw-Hill: 1980: 211.
  • Palek J. Jarolim P. Clinical expression and laboratory detection of red blood cell membrane protein mutation. Seminars in Hematology 1993; 30: 249-83.
  • Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Human mutation 2003; 21: 577-81.
  • Miraglia del Giudice E, Francese M, Nobili B, et al. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. J Pediatr 1998; 132: 117-20.
  • Miraglia del Giudice E, Lombardi C, Francese M, et al. S. Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin defi- ciency. Br J Haematol 1998; 101: 251-4.
  • IolasconA, Miraglia del Giudice E, Perrotta S, Alloision N, Morle L, Delunay J. Hereditary spherocytosis: from clinical to molecular defects. Haematologia 1998; 83: 240-57.
  • Palek J, Lux S. Red cell membrane skeletal defects in hereditary and acquired hemolytic anemias. Seminars in Hematology 1983; 20: 189-224.
  • Hassoun H, Palek J. Hereditary spherocytosis: a review of the clinical and molecular aspects of disease. Blood Reviews 1996; 10: 129-47.
  • Eber SW, Armbrust R, Schröter W. Variable clinical severity of here- ditary spherocytosis: relation to erythrocyte spectrin concentration, osmotic fragility and autohemolysis. J Pediatr 1990;117: 409-16.
  • Friedman EW, Williams JC, Van Hook L. Hereditary spherocyto- sis in elderly. Am J Med 1988; 84: 513-6.
  • Gallagher PG, Forget BG, Lux SE. Disorders of the erythrocyte membrane. In: Hematology of Infancy and Childhood. Nathan D, Oski F (eds). 5th eedit. Philadelphia Saunders 1998: 544-664.
  • Delaunay J. Genetic disorders of the red cell membrane. Crit Rev Oncol Hematol 1995; 19: 79-110.
  • Delaunay J, Alloison N, Morle L, et al. Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis. Annals of Genetics 1996; 39: 209-21.
  • Lux SE, Palek J. Disorders of the red cell membrane. In: Blood Principles and Practice of Hematology. Handin RI, Lux SE, Stossel TP (eds). Philadephia: Lippincott 1995: 1701-818.
  • Agre P, Casella JF, Zinkham WH, McMillan C, Bennett V. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 1985: 314-80.
  • Inoue T, Kanzaki A, Yawata A, et al. Uniquely higher incidence of isolated or combined deficiency of band3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary sphero- cytosis in the Japanese population. Int J Hematol 1994; 60: 227-38.
  • Jarolim P, Murray JL, Rubin H, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 defi- ciency. Blood 1996; 88: 4266-374.
  • De FranceschiL, Olivieri O, Miraglia del Giudice E, et al. Membrane cation and anion transport activities in erythrocyte of hereditary spherocytosis: Effects of different membrane protein defects. Am J Hematol 1997; 55: 121.
  • Weiss L, Tavssoli M. Anatomical hazards to the passage of ery- throcytes through the spleen. Semin Hematol 1970;7:372.
  • Delhommeau F, Cynober T, Schitchmanoff PO, et al. Natural his- tory of hereditary spherocytosis during the first year of life. Blood 2000; 95: 393-7.
  • Schröter W, Kahsnitz E. Diagnosis of hereditary spherocytosis in newborn infants. J Pediatr 1983; 103: 460.
  • Burman D. Congenital spherocytosis in infancy. Arch Dis Child 1958, 33: 335.
  • Trucco JI, Brown AK. Neonatal manifestations of hereditary spherocytosis. Am J Dis Child 1967; 113: 263
  • Agre P, Asimos A, Casella JF, McMillan C. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Eng J Med 1986; 315: 1579-83.
  • Gehlbach SH, Cooper BA. Haemolytic anaemia in infectious mononucleosis due to inapperant congenital spherocytosis. Scand J Haematol 1970; 7: 141-4.
  • Tchernia G, Delhommeau F, Perrotta S, et al. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J 2000; 1: 146-52
  • Celkan T, Karaman S, Apak H, Özkan A, Yüksel Soycan L, Yıldız İ. Herediter sferositozlu süt çocuklarında rekombinan eritropoetin tedavisi. Türk Pediatri Arşivi 2004; 39: 125-8.
  • Diamond LK. Indications for splenectomy in childhood: Results in fifty-two operated cases. Am J Surg 1938; 39: 400.
  • Brown KE. Haematological consequences of parvovirus B19 infec- tion. Baillieres Best Pract Res Clin Haematol 2000; 13: 245-59.
  • Murphy PT, O’Donnell JR. B 19 parvovirus infection causing aplastic crisis in 3 out of 5 family members with hereditary sphe- rocytosis. Ir J Med Sci 1990, 159: 182-4.
  • Brown KE, Young NS. Parvovirus B19 in human disease. Annu Rev Med 1997; 48: 59.
  • Rosenblatt DS, Hoffbrand AV. Megaloblastic anemia and disor- ders of cobalamin and folate metabolism. In: Pediatric Hematology (ed. By Lilleyman J, S, Hann I, M, Blanchette, V, S. London: Churchill Livingstone 1999: 167-84.
  • Bates G, Brown C. Incidence of gallbladder disease in chronic hemolytic anemia (spherocytosis). Gastroenterology 1952; 21: 104.
  • Rutkow IM. Twenty years of splenectomy for hereditary spherocy- tosis. Archives of Surgery 1981; 116: 306-8.
  • Pinto L, Iolascon A, Miraglia del Giudice E, Materese MR, Nobili B, Perrotta S. The Italian survey on hereditary spherocytosis. International Journal of Pediatric Hematology and Oncology 1995; 2: 43-7.
  • Roper D, Layton M, Lewis SM. Investigation of hereditary hemolytic anemias: Membrane and enzyme abnormalities. In Dacie and Lewis practical Hematology. 9thed. Lewis SM, Bain BJ, Bates I (ed) Churchill Livingstone 2001: 167-95.
  • King MJ, Behrens J, Rogers C, et al. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol 2000; 111: 924-33.
  • Canbolat Aylin. Kalıtsal sferositozlu hastalarımızın değerlendiril- mesi ve eritrosit zar protein eksikliğinin araştırılması. Tez araştır- maları, Cerrahpaşa Tıp Fakültesi. İstanbul 2006.
  • Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S. Erythrocyte membrane protein alterations underlying clinical hetero- geneity in hereditary spherocytosis. Br J Haematol 1994; 88: 52-5.
  • Saad ST, Costa FF, Vicentim DL, Salles Ts, Dilmara L. Vicentim, Pranke. PH. Red cell membrane abnormalities in hereditary spherocytosis in Brazil. Br J Haematol 1994; 88: 295-9.
  • Tshilolo L, Kagambega F, Sztern B, Vertongen F, Gulbis B. Hereditary spherocytosis. one year study of erythrocyte membrane proteins. Rev Med Brux 1998; 19: 417-23.
  • Davies JM, Barnes R, Milligan D. Update of guidelines for the pre- vention and treatment of infection in patients with an absent or dysfunctional spleen. Clinical Medicine: Journal of the Royal College of Physicians of London 2002; 2: 440-3.
  • Chapman RG, McDonald LL. Red cell life span after splenectomy in hereditary spherocytosis. J Clin Inves 1968; 47: 2263-7.
  • Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. In Pediatric Clinics North America. Coppes MJ, Ware RE (eds). WB Philadelphia Saunders company 2008; 55: 503-19
  • Singer DB. Postsplenectomy sepsis. Perspect Pediatr Pathol 1973; 1: 285-311.
Toplam 51 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Derleme
Yazarlar

Tiraje Celkan Bu kişi benim

Yayımlanma Tarihi 1 Haziran 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 44 Sayı: 11

Kaynak Göster

APA Celkan, T. (2009). Kalıtsal sferositoz Derleme. Türk Pediatri Arşivi, 44(11), 27-34.
AMA Celkan T. Kalıtsal sferositoz Derleme. Türk Pediatri Arşivi. Haziran 2009;44(11):27-34.
Chicago Celkan, Tiraje. “Kalıtsal Sferositoz Derleme”. Türk Pediatri Arşivi 44, sy. 11 (Haziran 2009): 27-34.
EndNote Celkan T (01 Haziran 2009) Kalıtsal sferositoz Derleme. Türk Pediatri Arşivi 44 11 27–34.
IEEE T. Celkan, “Kalıtsal sferositoz Derleme”, Türk Pediatri Arşivi, c. 44, sy. 11, ss. 27–34, 2009.
ISNAD Celkan, Tiraje. “Kalıtsal Sferositoz Derleme”. Türk Pediatri Arşivi 44/11 (Haziran 2009), 27-34.
JAMA Celkan T. Kalıtsal sferositoz Derleme. Türk Pediatri Arşivi. 2009;44:27–34.
MLA Celkan, Tiraje. “Kalıtsal Sferositoz Derleme”. Türk Pediatri Arşivi, c. 44, sy. 11, 2009, ss. 27-34.
Vancouver Celkan T. Kalıtsal sferositoz Derleme. Türk Pediatri Arşivi. 2009;44(11):27-34.