遗传性球形细胞增多症

Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990;117:409-416.

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Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012;156:37-49.

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Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411-1426.

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Delhommeau F, Cynober T, Schischmanoff PO, et al. Natural history of hereditary spherocytosis during the first year of life. Blood. 2000;95:393-397.

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Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-1313.

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Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011;155:308-317.

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British Committee for Standards in Haematology. Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. BMJ. 1996;312:430-434.

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1.  Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990;117:409-416.

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2.  Roy SM, Buchanan GR, Crary SE. Splenectomy in children with 'mild' hereditary spherocytosis. J Pediatr Hematol Oncol. 2013;35:430-433.

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3.  Mariani M, Barcellini W, Vercellati C, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica. 2008;93:1310-1317.

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4.  Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica. 2008;93:1283-1288.

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5.  Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012;156:37-49.

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6.  Gupta P, Eshaghi N, Ghole V, et al. Presacral extramedullary hematopoiesis: report of a case and review of the literature. Clin Imaging. 2008;32:487-489.

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7.  Bowling MR, Cauthen CG, Perry CD, et al. Pulmonary extramedullary hematopoiesis. J Thorac Imaging. 2008;23:138-141.

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8.  Jalbert F, Chaynes P, Lagarrigue J. Asymptomatic spherocytosis presenting with spinal cord compression: case report. J Neurosurg Spine. 2005;2:491-494.

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9.  Gallagher PG, Weed SA, Tse WT, et al. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. J Clin Invest. 1995;95:1174-1182.

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10.  Ribeiro ML, Alloisio N, Almeida H, et al. Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood. 2000;96:1602-1604.

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11.  Whitfield CF, Follweiler JB, Lopresti-Morrow L, et al. Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. Blood. 1991;78:3043-3051.

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12.  Kutter D. Hereditary spherocytosis is more frequent than expected: what to tell the patient? Bull Soc Sci Med Grand Duche Luxemb. 2005:7-22.

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13.  An X, Mohandas N. Disorders of red cell membrane. Br J Haematol. 2008;141:367-375.

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14.  King MJ, Garçon L, Hoyer JD, et al; International Council for Standardization in Haematology (ICSH). ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015;37:304-325.

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15.  Bolton-Maggs PH, King MJ. Hereditary spherocytosis, hereditary elliptocytosis and related disorders. In: Young NS, Gershon SL, High KA, eds. Clinical hematology. Philadelphia, PA: Mosby Elsevier; 2006:293-307.

16.  Young NS. Parvovirus infection and its treatment. Clin Exp Immunol. 1996;104(suppl 1):26-30.

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17.  Christensen RD, Yaish HM, Gallagher PG. A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. Pediatrics. 2015;135:1107-1114.

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18.  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;111:924-933.

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19.  King MJ, Smythe JS, Mushens R. Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis. Br J Haematol. 2004;124:106-113.

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20.  King MJ, Telfer P, MacKinnon H, et al. Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. Cytometry B Clin Cytom. 2008;74:244-250.

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21.  Hoffmann JJ, Swaak-Lammers N, Breed WP, et al. Diagnostic utility of the pre-incubated acidified glycerol lysis test in haemolytic and non-haemolytic anaemias. Eur J Haematol. 1991;47:367-370.

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22.  Korones D, Pearson HA. Normal erythrocyte osmotic fragility in hereditary spherocytosis. J Pediatr. 1989;114:264-266.

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23.  Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411-1426.

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24.  Economou M, Tsatra I, Athanassiou-Metaxa M. Simultaneous presence of Gilbert syndrome and hereditary spherocytosis: interaction in the pathogenesis of hyperbilirubinemia and gallstone formation. Pediatr Hematol Oncol. 2003;20:493-495.

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25.  Bianchi P, Fermo E, Vercellati C, et al. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica. 2012;97:516-523.

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26.  MacKinney AA Jr, Morton NE, Kosower NS, et al. Ascertaining genetic carriers of hereditary spherocytosis by statistical analysis of multiple laboratory tests. J Clin Invest. 1962;41:554-567.

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27.  Delhommeau F, Cynober T, Schischmanoff PO, et al. Natural history of hereditary spherocytosis during the first year of life. Blood. 2000;95:393-397.

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28.  American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004;114:297-316. [Erratum in: Pediatrics. 2004;114:1138.]

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29.  Schilling RF. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis - a personal view. Br J Haematol. 2009;145:728-732.

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30.  Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-1313.

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31.  Baird RN, Macpherson AI, Richmond J. Red-blood-cell survival after splenectomy in congenital spherocytosis. Lancet. 1971;2:1060-1061.

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32.  Chapman RG, McDonald LL. Red cell life span after splenectomy in hereditary spherocytosis. J Clin Invest. 1968;47:2263-2267.

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33.  Agre P, Asimos A, Casella JF, et al. Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Engl J Med. 1986;315:1579-1583.

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34.  Reliene R, Mariani M, Zanella A, et al. Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Blood. 2002;100:2208-2215.

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35.  Eraklis AJ, Kevy SV, Diamond LK, et al. Hazard of overwhelming infection after splenectomy in childhood. N Engl J Med. 1967;276:1225-1229.

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36.  Erickson WD, Burgert EO Jr, Lynn HB. The hazard of infection following splenectomy in children. Am J Dis Child. 1968;116:1-12.

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37.  Pedersen FK. Postsplenectomy infections in Danish children splenectomized 1969-1978. Acta Paediatr Scand. 1983;72:589-595.

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38.  Walker W. Splenectomy in childhood: a review in England and Wales, 1960-4. Br J Surg. 1976;63:36-43.

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39.  Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011;155:308-317.

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40.  British Committee for Standards in Haematology. Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. BMJ. 1996;312:430-434.

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41.  Xiros N, Economopoulos T, Papageorgiou E, et al. Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis. Ann Hematol. 2001;80:38-40.

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42.  Grace RF, Mednick RE, Neufeld EJ. Compliance with immunizations in splenectomized individuals with hereditary spherocytosis. Pediatr Blood Cancer. 2009;52:865-867.

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43.  Seims AD, Breckler FD, Hardacker KD, et al. Partial versus total splenectomy in children with hereditary spherocytosis. Surgery. 2013;154:849-853;discussion 853-855.

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44.  Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. Pediatr Clin North Am. 2008;55:503-519.

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45.  Ruparel RK, Bogert JN, Moir CR, et al. Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: is it really necessary? J Pediatr Surg. 2014;49:433-435.

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46.  Bader-Meunier B, Gauthier F, Archambaud F, et al. Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood. 2001;97:399-403.

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47.  Stoehr GA, Sobh JN, Luecken J, et al. Near-total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity. Br J Haematol. 2006;132:791-793.

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48.  Rice HE, Oldham KT, Hillery CA, et al. Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children. Ann Surg. 2003;237:281-288.

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49.  Stoehr GA, Stauffer UG, Eber SW. Near-total splenectomy: a new technique for the management of hereditary spherocytosis. Ann Surg. 2005;241:40-47.

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50.  Tchernia G, Bader-Meunier B, Berterottiere P, et al. Effectiveness of partial splenectomy in hereditary spherocytosis. Curr Opin Hematol. 1997;4:136-141.

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51.  Morinis J, Dutta S, Blanchette V, et al. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. J Pediatr Surg. 2008;43:1649-1652.

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52.  Buesing KL, Tracy ET, Kiernan C, et al. Partial splenectomy for hereditary spherocytosis: a multi-institutional review. J Pediatr Surg. 2011;46:178-183.

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53.  Tchernia G, Delhommeau F, Perrotta S, et al; ESPHI working group on hemolytic anemias. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J. 2000;1:146-152.

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54.  Schilling RF, Gangnon RE, Traver MI. Delayed adverse vascular events after splenectomy in hereditary spherocytosis. J Thromb Haemost. 2008;6:1289-1295.

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55.  Boone KE, Watters DA. The incidence of malaria after splenectomy in Papua New Guinea. BMJ. 1995;311:1273.

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56.  Das A, Bansal D, Ahluwalia J, et al. Risk factors for thromboembolism and pulmonary artery hypertension following splenectomy in children with hereditary spherocytosis. Pediatr Blood Cancer. 2014;61:29-33.

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57.  Hsiao M, Sathya C, Nathens AB, et al. Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. Ann Hematol. 2013;92:523-525.

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