A case of hereditary spherocytosis misdiagnosed as pyruvate kinase deficient hemolytic anemia

Clinical Laboratory

Volumn 59, Issue 3-4, 2013, Pages 421-424

  Vercellati, Cristina ^a   Marcello, Anna Paola ^a   Fermo, Elisa ^a   Barcellini, Wilma ^a   Zanella, Alberto ^a   Bianchi, Paola ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

Chronic hemolytic anemia; Hereditary spherocytosis; Mutation; Pyruvate kinase deficiency

Indexed keywords

HEMOGLOBIN; PYRUVATE KINASE;

ADOLESCENT; ARTICLE; BLOOD EXAMINATION; CASE REPORT; DIAGNOSTIC ERROR; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE FRAGILITY; ERYTHROCYTE MEMBRANE; GENE MUTATION; GENE SEQUENCE; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; MALE; NEWBORN JAUNDICE; PARECHOVIRUS; PATHOPHYSIOLOGY; PHOTOTHERAPY; POLYACRYLAMIDE GEL ELECTROPHORESIS; SPLENOMEGALY;

ADOLESCENT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; DIAGNOSTIC ERRORS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; MALE; PYRUVATE KINASE; PYRUVATE METABOLISM, INBORN ERRORS; SPHEROCYTOSIS, HEREDITARY;

EID: 84876539038     PISSN: 14336510     EISSN: None     Source Type: Journal    
DOI: 10.7754/Clin.Lab.2012.120905     Document Type: Article

References (17)

1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008;18:1411-26.
2. Tse WT, Lux SE. Red blood cell membrane disorders. Br J Haematol 1999;104:2-13.
3. Beutler E, Gelbart T. Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population. Blood 2000;95:3585-8.
4. 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;97:516-23.
5. Zarza R, Moscardó M, Alvarez R, et al. Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK Mallorca. Haematologica 2000;85:227-32.
6. th ed, Churchill Livingston, London. 2001.
7. 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;93:1310-7.
8. King MJ, Behrens J, Rogers C, et al. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol 200;111:924-933.
9. Girodon F, Garçon L, Bergoin E, et al. Usefulness of the eosin-5′maleimide cytometric method as a first-line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis. Br J Haematol 2008;140:468-70.
10. Fairbanks G, Steck TL, Wallach DF. Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane, Biochemistry 1971;10:2606-17.
11. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680-5.
12. Beutler E. Red cell metabolism: a manual of biochemical methods, New York, NY, Grune & Stratton, Inc. 1984.
13. Zanella A, Bianchi P, Baronciani L, et al. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients. Blood 1997;15:3847-52.
14. Valentini G, Chiarelli LR, Fortin R, et al. Structure and function of human erythrocyte pyruvate kinase. Molecular basis of non-spherocytic hemolytic anemia. J Biol Chem 2002;277:23807-14.
15. Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol 2005;130:11-25.
16. de Vooght KM, van Wijk R, van Wesel AC, van Solinge WW. Characterization of the -148C > T promoter polymorphism in PKLR. Haematologica 2008;93:1407-8.
17. Finkenstedt A, Bianchi P, Theur I, et al. Regulation of iron metabolism through GDF15 and hepcidin in pyruvate kinase deficiency. Br J Haematol 2009;144:789-93.