Prevalence of the H63D mutation of the HFE in north India: Its presence does not cause iron overload in beta thalassemia trait

European Journal of Haematology

Volumn 74, Issue 4, 2005, Pages 333-336

  Garewal, Gurjeewan ^a   Das, Reena ^a   Ahluwalia, Jasmina ^a   Marwaha, R K ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

Author keywords

Beta thalassemia trait; HFE gene mutations; Iron overload; North India

Indexed keywords

ASPARTIC ACID; CYSTEINE; HFE PROTEIN; HISTIDINE; IRON; TYROSINE;

ARTICLE; BETA THALASSEMIA; CONTROLLED STUDY; FEMALE; FERRITIN BLOOD LEVEL; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HOMOZYGOTE; HUMAN; INDIA; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; BETA-THALASSEMIA; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; HETEROZYGOTE; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; INDIA; IRON OVERLOAD; MALE; MEMBRANE PROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 16244421375     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2004.00390.x     Document Type: Article

References (15)

1. FEDER JN, GNIRKE A, THOMAS W, TSACHIHASHI Z, RUDDY DA, BASAVA A, DORMISHIAN E. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
2. GAREWAL G, DAS R, KAUR J, CHAWLA Y. H63D mutation of the HFE gene in beta thalassemia traits does not cause iron overload and the hereditary haemochromatosis in north India is of the non-HFE type. Blood 2002;100(suppl):4b. Abstract no 3465.
3. KAUR G, CHEN RAPTHAP C, XAVIER M, SAXENA R, CHOUDHARY VP, REUBEN SK, MEHRA NK. Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassemia major. Natl Med J India 2003;16:309-310.
4. REES DC, LUO LY, THEIN SL, SINGH BM, WICKRAMASINGHE S. Nontransfusional iron overload in thalassemia: association with hereditary haemachromatosis. Blood 1997;90:3234-3236.
5. BORGNA-PIGNATTI C, SOLINAS A, BOMBEIRI C, MICCIOLO R, GAMBERINI MR, DE STEFANO P, DE MENIS E, PIGNATTI PF. The haemochromatosis mutations do not modify the clinical picture of thalassemia major in patients regularly transfused and chelated. Br J Haematol 1998;103:813-816.
6. MELIS MA, CAU M, DEIDDA F, BARELLA S. CAO A, GALANELLO R. H63D mutation in the Hfe gene increases iron overload in beta thalassemia carriers. Haematologica 2002;87:242-245.
7. DAWSON DW, HOFFBRAND AV, WORWOOD M. Investigation of megaloblastic and iron deficiency anaemias. In: DACIE JV, LEWIS SM, eds. Practical Haematology, 7th edn. Edinburgh: Churchill Livingstone, 1991:412-413.
8. OLD JM, HIGGS DR. Gene analysis. In: WEATHERALL DJ, ed. The Thalassemias. London: Churchill Livingstone, 1983:74-102.
9. ROCHETTE J, POINTIN JJ, FISHER CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Human Genet 1999;64:1056-1062.
10. MERRYWEATHER-CLARKE AT, POINTON JJ, SHEARMAN JD, ROBSON KJH. Global prevalence of putative hemochromatosis mutations. J Med Genet 1997;34:275-278.
11. MERRYWEATHER-CLARKE AT, POINTON JJ, JOUANOLLE AM, ROCHETTE J, ROBSON KJ. Geography of HFE C282Y and H63D mutations. Genet Test 2000;4:183-198.
12. PIPERNO A, MARIANAI R, AROSIO C, et al. Haemochromatosis in patients with beta-thalassemia trait. Br J Haematol 2000;111:908-914.
13. RUIZ-ARGUELLES GJ, GARCES-EISELE J, REVEZ-NUNEZ V, SANCHEZ-ANZALDO J, RUIS-DELGADO GJ, JIMENEZ-GONZALEZ C, CARRERA B. Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred. Rev Invest Clin 2001;53:117-120.
14. SARAYA AK, KUMAR R, CHOUDHRY VP, KAILASH S, SEHGAL AK. A study of serum ferritin in beta thalassemia, iron deficiency and overload. Am J Clin Pathol 1985;84:103-107.
15. ROBSON KJH, MERRYWEATHER-CLARKE AT, CADET E, VIPRAKASIT V, ZAAHL MG, POINTON JJ, WEATHERALL DJ, ROCHETTE J. Recent advances in understanding haemochromatosis: a transition state. J Med Genet 2004;41:721-730.