Frequencies of HFE gene mutations associated with haemochromatosis in the population of Libya living in Benghazi

International Journal of Clinical and Experimental Medicine

Volumn 4, Issue 3, 2011, Pages 200-204

  Elmrghni, Samir ^a,b   Dixon, Ron A ^a   Ross Williams, D ^a  

^a UNIVERSITY OF LINCOLN   (United Kingdom)

^b UNIVERSITY OF BENGHAZI   (Libyan Arab Jamahiriya)

Author keywords

Allele frequency; Benghazi; C282Y; H63D; Haemochromatosis; HFE gene mutations; Libyan population

Indexed keywords

ALGERIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOME; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HFE GENE; HUMAN; LIBYAN ARAB JAMAHIRIYA; MALE; MISSENSE MUTATION; MUTATION RATE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT TANDEM REPEAT; Y CHROMOSOME;

EID: 80053613748     PISSN: None     EISSN: 19405901     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Phatak P, Bonkovsky H, Kowdley K. Hereditary hemochromatosis: Time for targeted screening. Ann Intern Med 2008; 149: 270-272.
2. Plaut D, McLellan W. Hereditary hemochromatosis. J Contin Educ Topics & Issues 2009; 11: 18-21.
3. Schrier S, Bacon B. Clinical manifestations of hereditary hemochromatosis. Retrieved on June 26, 2011, from UpToDate database licensed to Yakima Valley Memorial Hospital. 2008.
4. Bring P, Partovi N, Ford J, Yoshida E. Iron overload disorders: treatment options for patients refractory to or intolerant of phlebotomy. Pharmacother 2008; 28: 331-342.
5. Weinberg ED. Exposing the hidden dangers of iron. Nashville, TN: Cumberland House Publishing, Inc 2004.
6. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC classI like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 14: 249-251.
7. Aguilar P, Martinez PH. Jeanfeau C, Masmejean A, Guillard C, Biron H, Robesandratana J, Schved. Simple and rapid detection of the newly described mutations in the HLA-H gene. Blood 1997; 89: 1835-1836.
8. Lynas C, A cheaper and more rapid polymerase chain reaction restriction fragment polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis, Blood 1997; 90: 4235.
9. Aguilar-Martinez P, Picot MC, Becker F, Boulot P, Montoya F, Mares P, Bachelard B, Henry Y, Delarbre JL, Sarda P, Schved JF. Prevalence of HFE mutations in people from North Africa living in southern France. Br J Haematol 2001; 114: 914-916.
10. Merryweather Clarke AT, Pointon JJ, Joanolle AM, Rochette J, Robson KJ, Geography of HFE C282Y and H63D mutations. Genet Test 2000; 4: 183-198.
11. Roth M, Giraldo P, Hariti G, Polni ES, Sanchez-Mazas A, Stefane GF, Digoujou GM, Coppin H. Absence of the hemochromatosis gene Cys 282 Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal, Immunogenetics 1997; 46: 222-225.
12. Zorai A, Hartveld CL, Rachdi R, Dellagi K, Abbes S, Delbini P, Giordano PC. Frequency and spectrum of hemochromatosis mutations in Tunisia. Hematol J 2003; 4: 433-435.
13. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative hemochromatosis mutations. J Med Genet 1997; 34: 275-278.
14. Murphy S, Curran MD, McDougall N, Callender ME, O'Brien CJ, Middleton D. High incidence of the Cys 282 Tyr mutation in the HFE gene in Irish population implications for haemochromatosis. Tissue Antigens 1998; 52: 484-488.
15. Steffen R, Varning K, Jersild C. Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequencespecific primers. Tissue Antigens 1998; 52: 230-235.
16. Cardoso EM, Stål P, Hagen K, Cabeda JM, Esin S, de Sousa M, Hultcrantz R. HFE mutations in patients with hereditary haemochromatosis in Sweden. J Int Med 1998; 243: 203-208.
17. Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, Fraquelli M, Girelli D, Pasquero P, Roetto A, Gasparini P, Fargion S, Conte D, Camaschella C. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998; 114: 996-1002.
18. Gottschalk R, Seidl C, Löffler T, Seifried E, Hoelzer D, Kaltwasser JP. HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis. Tissue Antigens 1998; 51: 270-275.
19. Sánchez M, Bruguera M, Bosch J, Rodés J, Ballesta F, Oliva R. Prevalence of the Cys 282 Tyr and His 63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls, J. Hepatol 1998; 29: 725-728.
20. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, Grummer- Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States, J Am Med Assoc 2001; 285: 2216-2222.