Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene

Hematology

Volumn 12, Issue 6, 2007, Pages 549-553

  Kefala Agoropoulou, Kalomoira ^a   Roilides, Emmanuel ^a   Lazaridou, Anna ^b   Karatza, Eliza ^a   Farmaki, Evangelia ^a   Tsantali, Haido ^a   Augoustides Savvopoulou, Persephone ^a   Tsiouris, John ^a  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b THEAGENIO CANCER HOSPITAL   (Greece)

Author keywords

Deferoxamine therapy; Hemochromatosis; Infancy; Mitochondrial disorder; Pearson syndrome; Sideroblastic anemia

Indexed keywords

ALANINE; AMINOTRANSFERASE; AMPHOTERICIN B LIPID COMPLEX; C REACTIVE PROTEIN; CORTICOSTEROID; DEFEROXAMINE; ERYTHROPOIETIN; FERRITIN; GRANULOCYTE COLONY STIMULATING FACTOR; HEMOGLOBIN; HFE PROTEIN; IRON; METHYLPREDNISOLONE; TRANSFERRIN RECEPTOR;

ANAMNESIS; ANEMIA; ARTICLE; BLOOD TRANSFUSION; BONE MARROW BIOPSY; CASE REPORT; CLINICAL FEATURE; COMA; CONGENITAL DYSERYTHROPOIETIC ANEMIA; DIARRHEA; DRUG FEVER; DRUG WITHDRAWAL; ECHOGRAPHY; FEMALE; FEVER; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HEMOCHROMATOSIS; HEPATOMEGALY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPOKALEMIA; HYPOMAGNESEMIA; HYPOPHOSPHATEMIA; INFANT; INFANT MORTALITY; IRON INTAKE; IRON OVERLOAD; IRRITABILITY; KIDNEY DISEASE; KIDNEY HYPERTROPHY; LETHARGY; LIVER DISEASE; LUNG INFECTION; MUCORMYCOSIS; MUSCLE STIFFNESS; NEUROLOGIC DISEASE; NEUTROPENIA; PALLOR; PEARSON SYNDROME; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; RESPIRATORY DISTRESS SYNDROME; TACHYPNEA; THROMBOCYTOPENIA; TUBULAR DYSFUNCTION; VOMITING; WEAKNESS;

ANEMIA, SIDEROBLASTIC; DEFEROXAMINE; FATAL OUTCOME; FEMALE; HEMOCHROMATOSIS; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INFANT; IRON OVERLOAD; LIVER DISEASES; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; SYNDROME;

EID: 35748951618     PISSN: 10245332     EISSN: 16078454     Source Type: Journal    
DOI: 10.1080/10245330701400900     Document Type: Article

References (20)

1. Krahenbuhl, S., Kleinle, S. and Henz, S. (1999) Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome. J Hepatol, 31:3, pp. 550-555.
2. Sansone, G., Masera, G. and Terzoli, S. (1989) Congenital refractory anaemia with vacuolisation of bone marrow precursors, sideroblastosis and growth failure in a girl with normal endocrine pancreatic function. Haematologica, 74:6, pp. 587-590.
3. Fleming, MD (2002) The genetics of inherited sideroblastic anemias. Semin Hematol, 39:4, pp. 270-281.
4. Wiley, JSMM (2000) Pearsons syndrome. Hematology basic principals and practice, pp. 441-442. Churchill Livingstone, New York
5. Muraki, K., Nishimura, S. and Goto, Y. (1997) The association between haematological manifestation and mtDNA deletions in Pearson syndrome. J Inherit Metab Dis, 20:5, pp. 697-703.
6. Lacbawan, F., Tifft, CJ and Luban, NL (2000) Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome. Am J Med Genet, 95:3, pp. 266-268.
7. Muraki, K., Sakura, N. and Ueda, H. (2001) Clinical implications of duplicated mtDNA in Pearson syndrome. Am J Med Genet, 98:3, pp. 205-209.
8. Brahem-Jmili, N., Salem, N. and Abdelkefi, S. (2004) Hereditary sideroblastic anemia: A rare diagnosis. Ann Biol Clin (Paris), 62:3, pp. 349-352.
9. Cazzola, M., Invernizzi, R. and Bergamaschi, G. (2003) Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia. Blood, 101:5, pp. 1996-2000.
10. Maynadie, M., Picard, F. and Husson, B. (2002) Immunophenotypic clustering of myelodysplastic syndromes. Blood, 100:7, pp. 2349-2356.
11. Shin, MG, Kajigaya, S. and Levin, BC (2003) Mitochondrial DNA mutations in patients with myelodysplastic syndromes. Blood, 101:8, pp. 3118-3125.
12. Gattermann, N., Wulfert, M. and Junge, B. (2004) Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. Blood, 103:4, pp. 1499-1502.
13. Adams, PC, Reboussin, DM and Barton, JC (2005) Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med, 352:17, pp. 1769-1778.
14. Fleming, RE and Bacon, BR (2005) Orchestration of iron homeostasis. N Engl J Med, 352:17, pp. 1741-1744.
15. Kaplan, J. (2002) Strategy and tactics in the evolution of iron acquisition. Sem Hematol, 39:4, pp. 219-226.
16. Zaffanello, M. and Zamboni, G. (2005) Therapeutic approach in a case of Pearson's syndrome. Minerva Pediatr, 57:3, pp. 143-146.
17. Gurgey, A., Ozalp, I. and Rotig, A. (1996) A case of Pearson syndrome associated with multiple renal cysts. Pediatr Nephrol, 10:5, pp. 637-638.
18. Rotig, A. (2003) Renal disease and mitochondrial genetics. J Nephrol, 16:2, pp. 286-292.
19. Knerr, I., Metzler, M. and Niemeyer, CM (2003) Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. Blood, 25:12, pp. 948-951.
20. Bidooki, SK, Johnson, MA and Chrzanowska-Lightowlers, Z. (1997) Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet, 60:6, pp. 1430-1438.