Evidence for non-HFE linked hemochromatosis in Asian Indians

Indian Journal of Medical Sciences

Volumn 60, Issue 12, 2006, Pages 491-495

  Panigrahi, I ^a,b   Ahmad, F ^a   Kapoor, R ^a   Sharma, P ^a   Makharia, G ^a   Saxena, R ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b NONE   (India)

Author keywords

Chronic hepatitis; Cirrhosis; Ferroportin; Mutations; Transferrin saturation

Indexed keywords

TRANSFERRIN; TRANSFERRIN RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COLORIMETRY; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HEMOCHROMATOSIS; HFE1 GENE; HOMOZYGOSITY; HUMAN; INDIAN; LIVER CIRRHOSIS; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PROSPECTIVE STUDY; TFR GENE;

EID: 33845577361     PISSN: 00195359     EISSN: None     Source Type: Journal    
DOI: 10.4103/0019-5359.28978     Document Type: Article

References (18)

1. Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: A huge review. Human Genome Epidemiology. Am J Epidemiol 2001;154:193-206.
2. Kaur G, Rapthap CC, Xavier M, Saxena R, Choudhary VP, Reuben SK, et al. Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. Natl Med J India 2003;16:309-10.
3. Thakur V, Gupta RC, Hashmi AZ, Sakhuja P, Malhotra V, Sarin SK. Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. J Gastroenterol Hepatol 2004;19:86-90.
4. Garewal G, Das R, Ahluwalia J, Marwaha RK. Prevalence of the H63D mutation of the HFE in north India: Its presence does not cause iron overload in beta thalassemia trait. Eur J Haematol 2005;74:333-6.
5. Mullighan CG, Bunce M, Fanning GC, Marshall SE, Welsh KI. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut 1998;42:566-9.
6. Milman N, Pedersen P, Ovesen L, Melsen GV, Fenger K. Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes. Ann Hematol 2004;83:654-7.
7. Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 2001;97:2555-60.
8. Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: At the crossroads. Gastroenterology 1999;116:193-207.
9. Simsek H, Sumer H, Yilmaz E, Balaban YH, Ozcebe O, Hascelik G, et al. Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: Genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey. J Clin Gastroenterol 2004;38:671-5.
10. Viprakasit V, Vathesathokit P, Chinchang W, Tachavanich K, Pung-Amritt P, Wimhurst VL, et al. Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder. Eur J Haematol 2004;73:43-9.
11. Rees DC, Singh BM, Luo LY, Wickramasinghe S, Thein SL. Nontransfusional iron overload in thalassemia. Association with hereditary hemochromatosis. Ann N Y Acad Sci 1998;850:490-4.
12. Rossi E, Henderson S, Chin CY, Olynvk J, Beilby JP, Reed WD, et al. Genotyping as a diagnostic aid in genetic haemochromatosis. J Gastroenterol Hepatol 1999;14:427-30.
13. De Gobbi M, Daraio F, Oberkanins C, Moritz A, Kury F, Fiorelli G, et al. Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. Haematologica 2003;88:396-401.
14. Martinelli AL, Filho AB, Franco RF, Tavella MH, Ramalho LN, Zucoloto S, et al. Liver iron deposits in hepatitis B patients: Association with severity of liver disease but not with hemochromatosis gene mutations. J Gastroenterol Hepatol 2004;19:1036-41.
15. Lebray P, Zylberberg H, Hue S, Poulet B, Carnot F, Martin S, et al. Influence of HFE gene polymorphism on the progression and treatment of chronic hepatitis C. J Viral Hepat 2004;11:175-82.
16. Duseja A, Das R, Nanda M, Das A, Garewal G, Chawla Y. Nonalcoholic steatohepatitis in Asian Indians is neither associated with iron overload nor with HFE gene mutations. World J Gastroenterol 2005;11:393-5.
17. Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 11:14-5.
18. Robson KJ, Merryweather-Clarke AT, Cadet E, Viprakasit V, Zaahl MG, Pointon JJ, et al. Recent advances in understanding haemochromatosis: A transition state. J Med Genet 2004;41:721-30.