Abstract
To assess the prevalence of mutations in the HFE (hemochromatosis) gene in unselected
male patients with type 2 diabetes, we examined 220 white men without known diabetes
and 220 age-matched white men with type 2 diabetes for mutations in the HFE gene.
Nucleotide 845 (C282Y) and 187(H63D) alleles were amplified by polymerase chain reaction
(PCR) with lymphocyte DNA. The PCR products were analyzed by restriction enzyme digestion.
One of the 220 patients (0.45%) with diabetes was homozygous for the HFE 845A (C282Y)
mutation and 25 (11.3%) were heterozygous for the same mutation, of whom 3 (1.3%)
were compound heterozygotes also carrying the HFE 187G (H63D) mutation. These frequencies
did not differ significantly from the control population without diabetes. There is
no evidence that HFE mutations are found in excess in unselected male patients with
type 2 diabetes, and there is no indication for a population-based search for an excess
of these alleles in type 2 diabetes. (J Lab Clin Med 2000;135:170-3)
Abbreviations:
HFE (hemochromatosis gene), HH (hereditary hemochromatosis), PCR (polymerase chain reaction), TIBC (total iron-binding capacity)To read this article in full you will need to make a payment
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References
- Screening for hemochromatosis.N Engl J Med. 1993; 328: 1616-1620
- Global prevalence of putative hemochromatosis mutations.J Med Genet. 1997; 34: 275-278
- hemochromatosis gene mutation in hepatocellular cancer.Lancet. 1997; 350: 565-566
- A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England.Blood Cell Mol Dis. 1997; 23: 288-291
- Diagnosis of hemochromatosis.Gastroenterology. 1983; 84: 418-421
- Serum iron studies do not identify patients with end stage liver disease.Gastroenterology. 1996; 110: A1175
- Arthropathy, hypouricemia and normal serum iron studies in hereditary hemochromatosis.Am J Med. 1981; 70: 870-874
- Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests.Gastroenterology. 1984; 87: 628-633
- A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis.Nat Genet. 1996; 13: 399-408
- The prevalence of hereditary hemochromatosis in a diabetic population.Q J Med. 1997; 90: 271-275
- Usefulness of biochemical screening of diabetic patients for hemochromatosis.Diabetes Care. 1990; 13: 532-534
- Prevalence of hemochromatosis amongst patients with diabetes mellitus.Diabet Med. 1992; 9: 730-731
- Clinical features of genetic hemochromatosis in women compared with men.Ann Intern Med. 1997; 127: 105-110
- Testing for hemochromatosis in the diabetic clinic.Ann Clin Biochem. 1995; 32: 521-526
- Prevalence of genetic hemochromatosis among diabetic patients [comment].Lancet. 1989; 2: 233-234
- Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients.Gastroenterology. 1994; 107: 453-459
- Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus.Ann Intern Med. 1998; 128: 370-373
- Non-insulin dependent diabetes mellitus and elevated serum ferritin level.J Diabetes Complications. 1993; 7: 246-249
- C282Y mutation in HFE (hemochromatosis) gene and type 2 diabetes.Lancet. 1998; 351: 1933-1934
- Hereditary hemochromatosis mutations (HFE) in patients with type 2 diabetes mellitus.Diabetologia. 1998; 41: 983
- Contribution of the C282Y hereditary haemochromatosis mutation to type 2 diabetes mellitus in Ashkenazi Jews.Diabetes. 1998; 47: 1523
- Analysis of the relationship between a common Cys 282Tyr variant of the hereditary haemochromatosis gene and NIDDM.Diabetologia. 1997; 40: S1653
- Patients with type 2 diabetes have a high frequency of the C282Y mutation of the haemochromatosis gene.Clin Invest Med. 1998; 21: 252-257
- C282Y and H63D mutations of the haemochromatosis candidate gene in type 2 diabetes.Diabetes Care. 1999; 22: 525
- Mutations in HFE, the haemochromatosis candidate gene, in patients with NIDDM.Diabetes Care. 1998; 21: 1371-1372
- Recovery of pancreatic beta-cell function in hemochromatosis: combined treatment with recombinant human erythropoietin and phlebotomy.Am J Med Sci. 1997; 314: 401-402
- Letter.Lancet. 1998; 352: 1068
Article info
Publication history
Accepted:
September 21,
1999
Received in revised form:
September 10,
1999
Received:
March 24,
1999
Footnotes
☆Reprint requests: M. J. Sampson, MD, Department of Diabetes and Endocrinology, Norfolk and Norwich Hospital, Brunswick Road, Norwich NR1 3SR UK.
☆☆0022-2143/2000 $12.00 + 0 5/1/104464
Identification
Copyright
© 2000 Mosby, Inc. Published by Elsevier Inc. All rights reserved.
