Cervera GIA, García HM, Collazo MT

Language: Spanish
References: 9
Page: 98-104
PDF size: 216.93 Kb.

ABSTRACT

Background: hemochromatosis type 1 is an autosomal recessive genetic disorder, which should be diagnosed during its preclinical phase in order to prevent severe organ damage.
Objective: to establish the diagnosis of hemochromatosis type 1 in Cuba, and calculate its frequencies in patients with hepatopathies.
Methods: an analytic cross-sectional study was conducted including 65 patients with liver disease, who were referred to the laboratory of Molecular Biology of the National Medical Genetics Center by clinical geneticists. A PCR-RFLP analysis was used for detecting the C282Y and H63D mutations in the HFE gene.
Results: PCR-RFLP analysis was standardized for the detection of C282Y and H63D mutations. Frequencies of C282Y and H63D mutations in the HFE gene in patients with hepatopathies were 6.3% and 18.2% respectively.
Conclusions: molecular diagnosis of C282Y and H63D mutations in the HFE gene causing hemochromatosis type 1 contributed to the identification of 28 carriers in the 65 patients who were studied, as well as a homozygous individual for the H63D mutation, which shows the high prevalence of these mutations in Cuban patients with liver disease.

REFERENCES

1. Cervera IA. Hemocromatosis tipo I. Patogenia y diagnóstico. Medisur. 2012 ; 10 (2): 1-20.

2. Adams PC, Barton JC. Haemochromatosis. The Lancet. 2007 ; 370 (9602): 1855-60.

3. Pietrangelo A. Hereditary hemochromatosis:pathogenesis, diagnosis and treatment. Gastroenterology. 2010 ; 139 (2): 393-408.

4. Torremocha RA, Salido MC, Santiago C, Chicharro L, López I, Martín MJ. Prevalencia de mutaciones C282Y, H63D y S65C en un colectivo laboral del País Vasco. Rev Diagn Biol. 2002 ; 51 (4): 140-4.

5. Bacon B, Adams P, Kowdley K, Powell L, Tavill A. Diagnosis and management of hemochromatosis:2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 ; 54 (1): 328-43.

6. Jouanolle AM, Gérolami V, Ged C, Grandchamp B, Le Gac G, Pissard S, et al. Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France. Ann Biol Clin (Paris). 2012 ; 70 (3): 305-13.

7. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 ; 16 (3): 1215.

8. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 ; 13 (4): 399-408.

9. Sassi R, Hmida S, Kaabi H, Hajjej A, Abid A, Abdelkefi S, et all. Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population. Ann Genet. 2004 ; 47 (4): 325-30.