Flow-Assisted Differential Diagnosis of Hemolytic Anemia with Spherocytosis: A Case Report
2
조회
0
다운로드
1
인용
0
참고문헌
키워드
초록
In patients with hemolytic anemia associated with spherocytosis, differential diagnosis has to be made whether the hemolysis is immune-mediated or of non-immune origin. We report a case of hereditary spherocytosis in a 12-yr-old male child, in whom flow-assisted diagnosis was made. In this case, diagnosis was not determined because routine laboratory workups for hereditary spherocytosis yielded discrepant results: positive osmotic fragility test, positive direct antiglobulin test, and normal result in the red cell membrane protein sodium dodecyl succinimide polyacrylamide gel electrophoresis. However, all flow cytometry-based tests, such as osmotic fragility, direct antiglobulin, and eosin 5-maleimide binding test, yielded results compatible with hereditary spherocytosis. Additionally, in family study, the results of eosin 5-maleimide binding test suggested his disease being hereditary. In cases with diagnostic difficulties, flow cytometry may be used as an alternative tool, which can provide additional information in the differential diagnosis of hemolytic anemia with spherocytosis. (Korean J Lab Med 2010;30:339-44)
Abstract
In patients with hemolytic anemia associated with spherocytosis, differential diagnosis has to be made whether the hemolysis is immune-mediated or of non-immune origin. We report a case of hereditary spherocytosis in a 12-yr-old male child, in whom flow-assisted diagnosis was made. In this case, diagnosis was not determined because routine laboratory workups for hereditary spherocytosis yielded discrepant results: positive osmotic fragility test, positive direct antiglobulin test, and normal result in the red cell membrane protein sodium dodecyl succinimide polyacrylamide gel electrophoresis. However, all flow cytometry-based tests, such as osmotic fragility, direct antiglobulin, and eosin 5-maleimide binding test, yielded results compatible with hereditary spherocytosis. Additionally, in family study, the results of eosin 5-maleimide binding test suggested his disease being hereditary. In cases with diagnostic difficulties, flow cytometry may be used as an alternative tool, which can provide additional information in the differential diagnosis of hemolytic anemia with spherocytosis. (Korean J Lab Med 2010;30:339-44)
참고문헌 (16)
- Gallagher PG, "Disorders of the erythrocyte membrane. In: Nathan DG and Orkin SH, eds. Nathan and Oski’s hematology of infancy and childhood. 5th ed", pp.544~664 (1998), WB Saunders
- Bolton-Maggs PH, "General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis", Br J Haematol, 126, pp.455~474 (2004)
- Garratty G, "The significance of IgG on the red cell surface", Transfus Med Rev, 1, pp.47~57 (1987)
- 이영경, "유전성용혈성빈혈에서 SDS-PAGE를 이용한 적혈구막 단백성분분석", 대한혈액학회지, 34, pp.559~567 (1999)
- King MJ, "Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis", Cytometry B Clin Cytom, 74, pp.244~250 (2008)
- King MJ, "Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis", Br J Haematol, 124, pp.106~113 (2004)
- Kedar PS, "Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders", Clin Lab Haematol, 25, pp.373~376 (2003)
- King MJ, "Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia", Br J Haematol, 111, pp.924~933 (2000)
- Won DI, "Flow cytometric detection of erythrocyte osmotic fragility", Cytometry B Clin Cytom, 76, pp.135~141 (2009)
- Won DI, "Flow cytometry antibody screening using pooled red cells", Cytometry B Clin Cytom, 78, pp.96~104 (2010)
- Kerr R, "Direct antiglobulin test negative, non spherocytic autoimmune haemolytic anaemia", Clin Lab Haematol, 22, pp.365~367 (2000)
- Boyd AS, "Hereditary spherocytosis", Am Fam Physician, 39(1), pp.67~172 (1989)
- Ruddy S, "Complement in Manual of clinical laboratory immunology. 4th ed", pp.114~123 (1992), American Society for Microbiology
- Downes KA, "Pretransfusion testing in Technical manual. 16th ed", pp.437~463 (2008), American Association of Blood Banks
- Leger RM, "The positive direct antiglobulin test and immune-mediated hemolysis in Technical manual. 16th ed.", pp.499~521 (2008), American Association of Blood Banks
- Mentzer WC, "Red cell membrane abnormalities in Pediatric hematology. 2nd ed.", pp.257~283 (1999), Churchill Livingstone
