HFE mutation H63D predicts risk of iron over load in thalassemia intermedia irrespective of blood transfusions

Indian Journal of Pathology and Microbiology

Volumn 50, Issue 1, 2007, Pages 82-85

  Sharma, Vineeta ^a   Panigrahi, Inusha ^a   Dutta, Pankhi ^a   Tyagi, Seema ^a   Choudhry, Ved Prakash ^a   Saxena, Renu ^a,b  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b INSTITUTE ROTARY CANCER HOSPITAL   (India)

Author keywords

HbE; Hemochromatosis; HFE 1; Mutations; Serum ferritin

Indexed keywords

FERRITIN; HEMOGLOBIN E; HFE PROTEIN; IRON;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; BLOOD TRANSFUSION; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY HISTORY; FERRITIN BLOOD LEVEL; GENE MUTATION; HEMOCHROMATOSIS; HEMOLYTIC ANEMIA; HETEROZYGOSITY; HOSPITAL PERSONNEL; HUMAN; IRON OVERLOAD; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; OUTPATIENT DEPARTMENT; PREVALENCE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BLOOD TRANSFUSION; CHILD; CHILD, PRESCHOOL; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; FERRITINS; GENETIC PREDISPOSITION TO DISEASE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; INFANT; IRON; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PROSPECTIVE STUDIES; THALASSEMIA;

EID: 34147207013     PISSN: 03774929     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. th ed. Oxford:Blackwell Science, 2001:237-84.
2. Cossu P, Toccafondi C, Vardeu F, Sanna G, Fran F, Lobrano R, et al. Iron overload and desferoxamine chelation therapy in beta-thalassemia. Eur J Pediatr1981; 137:267-71.
3. Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol2001; 154:193-206.
4. Kaur G, Rapthap CC, Xavier M, et al. Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. Natl Med J India2003; 16:309-10.
5. 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 Hepatol2004; 19:86-90.
6. 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; 74:333-36.
7. Chang JG, Tseng WP, Yang LH, Lee LS, Chen PH, Liu TC. Rapid diagnosis of hemoglobin constant spring and hemoglobin E by amplified created restriction sites. Blood 1993; 81:565-6.
8. Mullighan CG, Bunce M, Fanning GC, Marshall SE, Welsh KI. A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population. Gut1998; 42:566-9.
9. 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 Hematol2004; 83:654-7.
10. Viprakasit V, Vathesathokit P, Chinchang W, 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 Sci1998; 850:490-4.
12. Cappellini MD, Fargion SR, Sampietro M, Graziadei G, Fiorelli G . Nontransfusional iron overload in thalassemia intermedia: role of the hemochromatosis allele. Blood1998; 92:4479-80.
13. Politou M, Kalotychou V, Pissia M, Rombos Y, Sakellaropoulos N, Papanikolaou G. The impact of the mutations of the HFE gene and of the SLC11A3 gene on iron overload in Greek thalassemia intermedia and beta(s)/beta (thal) anemia patients. Haematologica2004; 9:490-2.