Iranian hereditary hemochromatosis patients: Baseline characteristics, laboratory data and gene mutations

Medical Science Monitor

Volumn 18, Issue 10, 2012, Pages

  Zamani, Farhad ^a   Bagheri, Zohreh ^a   Bayat, Maryam ^a   Fereshtehnejad, Seyed Mohammad ^a   Basi, Ali ^a   Najmabadi, Hossein ^b   Ajdarkosh, Hossein ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

Author keywords

Gene mutation; Hereditary hemochromatosis; Iron overload

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CHOLESTEROL; FERRITIN; FOLLITROPIN; IRON; LOW DENSITY LIPOPROTEIN; TESTOSTERONE; THYROTROPIN; TRIACYLGLYCEROL;

ADULT; ARTICLE; ATOMIC ABSORPTION SPECTROMETRY; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ECHOGRAPHY; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HYPERPIGMENTATION; IMPOTENCE; INFERTILITY; IRAN; IRON BINDING CAPACITY; IRON OVERLOAD; LIVER BIOPSY; MALE; SKIN COLOR;

EID: 84867613955     PISSN: 12341010     EISSN: 16433750     Source Type: Journal    
DOI: 10.12659/MSM.883489     Document Type: Article

References (45)

1. Carella M, D'Ambrosio L, Totaro A et al: Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet, 1997; 60(4): 828-32
2. Richard D: Hereditary Hemochromatosis Impact of Molecular and Iron-Based Testing on the Diagnosis, Treatment, and Prevention of a Common, Chronic Disease. Arch Pathol Lab Med, 1999; 123: 1053-59
3. Jorquera F, Domínguez A, Díaz-Golpe V et al: C282Y and H63D mutations of haemochromatosis gene in patients with iron overload. Rev Esp Enferm Dig, 2001; 93: 298-302
4. Feder JN, Gnirke A, Thomas W et al: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet, 1996; 13: 399-408
5. Brissot P, Troadec M, Bardou-Jacquet E et al: Current approach to hemochromatosis. Blood Reviews, 2008; 22: 195-210
6. Olynyk JK, Cullen DJ, Aquilia S et al: A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med, 1999; 341: 718-24
7. Franchini M: Hereditary Iron Overload: Update on Pathophysiology, Diagnosis and Treatment. Am J Hematol, 2006; 81: 202-9
8. Bradley LA, Haddow JE, Palomaki GE: Population screening for haemochromatosis: a unifying analysis of published intervention. J Med Screen, 1996; 3: 178-84
9. McDonnell SM, Phatak PD, Felitti V et al: Screening for hemochromatosis in primary care settings. Ann Intern Med, 1998; 129: 962-70
10. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ: Global prevalence of putative haemochromatosis mutations. J Med Genet, 1997; 34: 275-78
11. Yavarian M, SaberFiroozi M, Mehrabani D et al: Prevalence of the HFE Gene Mutation in the Liver Transplanted and Primary Hemochromatosis Patients in the Southern Iran, IRCMJ, 2010; 12: 22-26
12. Gochee PA, Powell LW, Cullen DJ et al: A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology, 2002; 122: 646-51
13. Agah MR, Zafarghandi M, Motahari Z et al: Frequency and biochemical expression of hemochromatosis (HFE) gene mutations in 1029 blood donors in Iran. Medical Sciences Journal of Islamic Azad University, 2005; 15: 85-90
14. Nobakht H, Merat Sh, Malekzadeh R: Hereditary hemochromatosis: a rare disease in iran. Arch Iran Med. 2006; 9: 78-80
15. Pan HY, Wang LJ: Case report of HFE gene testing for the diagnosis of hereditary hemochromatosis. J Dig Dis, 2011; 12: 409-11
16. Milić S, Ristić S, Starčević-Čizmarević N et al: Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis. Med Sci Monit, 2011; 17(10): CR552-56
17. Clark P, Britton LJ, Powell LW: The Diagnosis and Management of Hereditary Haemochromatosis. Clin Biochem Rev, 2010; 31: 3-8
18. Voicu PM, Cojocariu C, Petrescu-Danila E et al: Prevalence of HFE (hemochromatosis) gene mutations C282Y andH63D in a Romanian population. Blood Cells. Molecules and Diseases, 2009; 42: 14-15
19. Piperno A, Sampietro M, Pietrangelo A et al: Heterogeneity of hemochromatosis in Italy. Gastroenterology, 1998; 114: 996-1002
20. Hayashi H, Wakusawa S, Motonishi S et al: Genetic background of primary iron overload syndromes in Japan. Intern Med, 2006; 45: 1107-11
21. Sharifi F, Esmaeilzadeh A, Zali MR: Hemochromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population. Saudi Med J, 2008; 29: 808-12
22. Ghaziani T, Alavian SM, Zali MR et al: Serum measures of iron status and HFE gene mutations in patients with hepatitis B virus infection. Hepatology Research, 2007; 37: 172-78
23. Jazayeri M, Bakayev V, Adibi P et al: Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. Eur J Haematol, 2003; 71: 408-11
24. Mohammadalizadeh AH, Masoudi M, Ehsani ardakani MJ et al: Non HFE-related hemochromatosis; a case report from Iran. Govaresh Journal, 2004; 9: 9-66
25. Powell LW, George DK, McDonnell SM, Kowdley KV: Diagnosis of hemochromatosis. Ann Intern Med, 1998; 129: 925-31
26. Witte DL, Crosby WH, Edwards CQ et al: Practice Guideline Development Task Force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta, 1996; 245: 139-200
27. The Criteria Committee of the New York Heart Association. Diseases of the Heart and Blood Vessels: Nomenclature and Criteria for Diagnosis. 9th ed. Boston, Mass: Little, Brown & Co., 1994; 253-56
28. Bedossa P, Poynard T: The French METAVIR Cooperative Study Group. An algorithm for grading activity in chronic hepatitis C. Hepatology, 1996; 24: 289-93
29. O'Neil J, Powell L: Clinical aspects of hemochromatosis. Semin Liver Dis, 2005; 25: 381-91
30. Scheuer PJ, Williams R, Muir AR: Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol, 1962; 84: 53-64
31. Rosai J, Ackerman LV: Rosai and Ackerman's Surgical Pathology. Mosby, 9th ed., 2004
32. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res, 1988; 16: 1215
33. Wallace DF, Subramaniam VN: Non-HFE haemochromatosis. World J Gastroenterol, 2007; 13: 4690-98
34. Jowkar Z, Geramizadeh B, Shariat M: Frequency of two common HFE gene mutations (C282Y and H63D) in a group of Iranian patients with cryptogenic cirrhosis. Hepat Mon, 2011; 11: 887-89
35. Fuchs J, Podda M, Packer L, Kaufmann R: Morbidity risk in HFE associated hereditary hemochromatosis C282Y heterozygotes. Toxicology, 2002; 180: 169-81
36. Jensen PD: Evaluation of iron overload. Br J Haematol, 2004; 124: 697-711
37. Merryweather-Clarke AT, Worwood M, Parkinson L et al: The effect of HFE mutations on serum ferritin and transferrin saturation in the jersey population. Br J Haematol, 1998; 101: 369-73
38. Sham RS, Raubertas RF, Braggins C et al: Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. Blood, 2000; 96: 3707-11
39. Solanas-Barca M, Mateo-Gallego R, Calmarza P et al: Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. J Clin Endocrinol Metab, 2009; 94: 4391-97
40. Yu XY, Wang BB, Xin ZC et al: An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population. Asian J Androl, 2012; 14(4): 599-603
41. Risch NL Haemochromatosis, HFE and genetic complexity. Nat Genetic, 1997; 17: 375-76
42. Hattori A, Tomosugi N, Tatsumi Y et al: Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. Blood Cells Mol Dis, 2012; 48: 179-82
43. Takano A, Niimi H, Atarashi Y et al: A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh7 is a human haemochromatotic cell line. Liver Int, 2011; 31: 1593-97
44. Rossi E, Bulsara MK, Olynyc JK et al: Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem, 2001; 47: 202-8
45. Habibzadeh F, Yadollahie M, Merat A, Haghshenas M: Thalassemia in Iran: an overview. Arch Irn Med, 1998; 1: 27-34