Molecular Updating of β-Thalassemia Mutations in the Upper Egyptian Population

REFERENCES

• Patrinos GP, Giardine B, Riemer C, Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ. Keynote address: The challenge of thalassemia for the developing countries. Ann NY Acad Sci. 2005;1054:11–17.
   PubMed Web of Science ®Google Scholar
• Hashem N. Thalassemia syndromes and other haemoglobinopathies prevalent among Egyptians. Preventable Aspects of Genetics Morbidity. Proceedings of the First International Conference held at Cairo, Egypt, March 30–April 4 1978. 1978;1:54–57.
   Google Scholar
• Rady MS, Baffico M, Khalifa AS, Identification of Mediterranean β-thalassemia mutations by reverse dot-blot in Italians and Egyptians. Hemoglobin. 1997;21(1):59–69.
   PubMed Web of Science ®Google Scholar
• el-Hashemite N, Petrou M, Khalifa AS, Identification of novel Asian Indian and Japanese mutations causing β-thalassaemia in the Egyptian population. Hum Genet. 1997;99(2):271–274.
   PubMed Web of Science ®Google Scholar
• Shawky RM, Khalifa AS, Mokhtar GM, Prenatal diagnosis of β-thalassemia via automated DHPLC analysis of fetal cells in maternal circulation, Egypt J Med Hum Genet. 2003;4(2):1–8.
   Google Scholar
• Richards B, Skoletsky J, Shuber AP, Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet. 1993;2(2):159–163.
   PubMed Web of Science ®Google Scholar
• Elhawary NA, Shawky RM, Hashem N. Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families. Mol Cells. 2004;18(2):141–149.
   PubMedGoogle Scholar
• Fortina P, Dotti G, Conant R, Detection of the most common mutations causing β-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS). PCR Methods Appl. 1992;2(2):163–166.
   PubMedGoogle Scholar
• Ugozzoli LA, Lowery JD, Reyes AA, Evaluation of the BeTha gene 1 kit for the qualitative detection of the eight most common Mediterranean beta-thalassemia mutations. Am J Hematol. 1998;59(3):214–222.
   PubMedGoogle Scholar
• EDHS, Egypt Demographic Health Service (2008). http://www.measuredhs.com/pubs/.
   Google Scholar
• Weinreb AA. Characteristics of women in consanguineous marriages in Egypt, 1988–2000. Eur J Population/Revue européenne de Démographie. 2008;24(2):185–210.
   Google Scholar
• Hussein FH. Endogamy in Egyptian Nubia. Biosoc Sci. 1971;3:351–357.
   PubMedGoogle Scholar
• Novelletto A, Hafez M, Deidda G, Molecular characterization of β-thalassemia mutations in Egypt. Hum Genet. 1990;85(3):272–274.
   PubMed Web of Science ®Google Scholar
• Hussein IR, Temtamy SA, el-Beshlawy A, Molecular characterization of β-thalassemia in Egyptians. Hum Mutat. 1993;2(1):48–52.
   PubMed Web of Science ®Google Scholar
• Omar A, Abdel Karim E, Gendy WE, Marzouk I, Wagdy M. Molecular basis of β-thalassemia in Alexandria. Egypt J Immunol. 2005;12(1):15–24.
   PubMedGoogle Scholar
• El-Beshlawy A, Kaddah N, Moustafa A, Mouktar G, Youssry I. Screening for β-thalassaemia carriers in Egypt: significance of the osmotic fragility test. East Mediterr Health J. 2007;13(4):780–786.
   PubMedGoogle Scholar
• el-Gawhary S, El-Shafie S, Niazi M, Aziz M, El-Beshlawy A. Study of β-thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian thalassemia patients. Hemoglobin. 2007;31(1):63–69.
   PubMed Web of Science ®Google Scholar
• Zahed L, Qatanani M, Nabulsi M, Taher A. β-Thalassemia mutations and haplotype analysis in Lebanon. Hemoglobin. 2000;24(4):269–276.
   PubMed Web of Science ®Google Scholar
• Patrinos GP, van Baal S, Petersen MB, Papadakis MN. Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population. Hum Mutat. 2005;25(4):327–333.
   PubMed Web of Science ®Google Scholar
• Keser I, Sanlioglu AD, Manguoglu E, Molecular analysis of β-thalassemia and sickle cell anemia in Antalya. Acta Haematol. 2004;111(4):205–210.
   PubMed Web of Science ®Google Scholar
• Zahed L. The Spectrum of β-thalassemia mutations in the Arab populations. J Biomed Biotechnol. 2001;1(3):129–132.
   PubMedGoogle Scholar
• Adekile AD, Gu L-H, Baysal E, Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Haematol. 1994;92(4):176–181.
   PubMed Web of Science ®Google Scholar
• Amselem S, Nunes V, Vidaud M, Determination of the spectrum of β-thalassemia genes in Spain by use of dot-blot analysis of amplified β-globin DNA. Am J Hum Genet. 1988;43(1):95–100.
   PubMed Web of Science ®Google Scholar
• Gomes MP, da Costa MG, Braga LB, β-Thalassemia mutations in the Portuguese population. Hum Genet. 1988;78(1):13–15.
   PubMed Web of Science ®Google Scholar
• Bouhass R, Perrin P, Trabuchet G. The spectrum of β-thalassemia mutations in the Oran region of Algeria. Hemoglobin. 1994;18(3):211–219.
   PubMed Web of Science ®Google Scholar
• Chibani J, Vidaud M, Duquesnoy P, The peculiar spectrum of β-thalassemia genes in Tunisia. Hum Genet. 1988;78(2):190–192.
   PubMed Web of Science ®Google Scholar
• Kyriacou K, Al Quobaili F, Pavlou E, Christopoulos G, Ioannou P, Kleanthous M. Molecular characterization of β-thalassemia in Syria. Hemoglobin. 2000;24(1):1–13.
   PubMed Web of Science ®Google Scholar
• Filon D, Faerman M, Smith P, Oppenheim A. Sequence analysis reveals a β-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel. Nat Genet. 1995;9(4):365–368.
   PubMedGoogle Scholar
• Sadiq MF, Eigel A, Horst J. Spectrum of β-thalassemia in Jordan: identification of two novel mutations. Am J Hematol. 2001;68(1):16–22.
   PubMed Web of Science ®Google Scholar
• el-Hazmi MA, Warsy AS. Appraisal of sickle-cell and thalassaemia genes in Saudi Arabia. East Mediterr Health J. 1999;5(6):1147–1153.
   PubMedGoogle Scholar
• Al-Ali AK, Al-Ateeq S, Imamwerdi BW, Molecular bases of β-thalassemia in the Eastern Province of Saudi Arabia. J Biomed Biotechnol. 2005;2005(4):322–325.
   PubMedGoogle Scholar
• Jassim N, Merghoub T, Pascaud O, Molecular basis of β-thalassemia in Bahrain: an epicenter for a Middle East specific mutation. Ann NY Acad Sci. 1998;850:407–409.
   PubMed Web of Science ®Google Scholar
• Gamarra S, Garcia-Effron G, Monteserin C, β-Thalassaemia major in a Spanish patient due to a compound heterozygosity for CD39C>T/-28A>C. Adv Hematol 2009;2009:476342.
   PubMedGoogle Scholar
• Chehab FF, Der Kaloustian V, Khouri FP, Deeb SS, Kan YW. The molecular basis of β-thalassemia in Lebanon: application to prenatal diagnosis. Blood. 1987;69(4):1141–1145.
   PubMed Web of Science ®Google Scholar
• Bennani C, Bouhass R, Perrin-Pecontal P, Anthropological approach to the heterogeneity of β-thalassemia mutations in northern Africa. Hum Biol. 1994;66(3):369–382.
   PubMed Web of Science ®Google Scholar
• Henderson S, Timbs A, McCarthy J, Incidence of haemoglobinopathies in various populations – the impact of immigration. Clin Biochem. 2009;42(18):1745–1756.
   PubMed Web of Science ®Google Scholar
• Hasounah FH, Sejeny SA, Omer JA, Old JM, Oliver RW. Spectrum of β-thalassaemia mutations in the population of Saudi Arabia. Hum Hered. 1995;45(is4):231–234.
   PubMedGoogle Scholar