A KOREAN FAMILY WITH A DOMINANTLY INHERITED β-THALASSEMIA DUE TO Hb DURHAM-N.C./BRESCIA [β114(G16)Leu→Pro]

REFERENCES

• Thein S. L. Is it dominantly inherited β thalassaemia or just a β-chain variant that is highly unstable?. Br. J. Haematol. 1999; 107: 12–21
   PubMed Web of Science ®Google Scholar
• Huisman T. H.J., Carver M. F.H., Baysal E. A Syllabus of Thalassemia Mutations (1997). The Sickle Cell Anemia Foundation, Augusta, GAUSA 1997, http:// globin.cse.psu.edu
   Google Scholar
• Murru S., Poddie D., Sciarratta G. V., Agosti S., Baffico M., Melevendi C., Pirastu M., Cao A. A novel β-globin structural mutant, Hb Brescia (β114 Leu→Pro), causing a severe β-thalassemia intermedia phenotype. Hum. Mutat. 1992; 1: 124–128
   PubMedGoogle Scholar
• deCastro C. M., Devlin B., Fleenor D. E., Lee M. E., Kaufman R. E. A novel β-globin mutation, β Durham-NC [β114 Leu→Pro], produces a dominant thalassemia-like phenotype. Blood 1994; 83: 1109–1116
   PubMedGoogle Scholar
• Çürük M. A., Molchanova T. P., Postnikov Yu. V., Pobedimskaya D. D., Liang R., Baysal E., Kolodey S., Smetanina N. S., Tokarev Yu. N., Rumyantsev A. G., Huisman T. H.J. β-Thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. Am. J. Hematol. 1994; 46: 329–332
   PubMed Web of Science ®Google Scholar
• Dacie J. V., Lewis S. M. Practical Haematology. 8th edition, Churchill Livingstone, Singapore 1995
   Google Scholar
• Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16: 1215
   PubMed Web of Science ®Google Scholar
• Kim J. Y., Park S. S., Jung H. L., Keum D. H., Park H., Chang Y. H., Lee Y. J., Cho H. I. Hb Madrid [β115(G17)Ala→Pro] in a Korean family with chronic hemolytic anemia. Hemoglobin 2000; 24(2)133–138
   PubMed Web of Science ®Google Scholar
• Orkin S. H., Kazazian H. H., Jr., Antonarakis S. E., Goff S. C., Boehm C. D., Sexton J. P., Waber P. G., Giardina P. J.V. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature 1982; 296: 627–631
   PubMed Web of Science ®Google Scholar
• Sutton M., Bouhassira E. E., Nagel R. L. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am. J. Hematol. 1989; 32: 66–69
   PubMed Web of Science ®Google Scholar
• Furuumi H., Firdous N., Inoue T., Ohta H., Winichagoon P., Fucharoen S., Fukumaki Y. Molecular basis of β-thalassemia in the Maldives. Hemoglobin 1998; 22(2)141–151
   PubMed Web of Science ®Google Scholar
• Antonarakis S. E., Boehm C. D., Giardina P. J.V., Kazazian H. H., Jr. Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. Proc. Natl. Acad. Sci. USA 1982; 79: 137–141
   PubMed Web of Science ®Google Scholar
• Ferrie R. M., Schwarz M. J., Robertson N. H., Vaudin S., Super M., Malone G., Little S. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am. J. Hum. Genet. 1992; 51: 251–262
   PubMed Web of Science ®Google Scholar
• Little S. Amplication-refractory mutation system (ARMS) analysis of point mutations. Current Protocols in Human Genetics, N. C. Dracopoli, J. L. Haines, B. R. Korf, D. T. Moir, C. C. Morton, C. E. Seidman, J. G. Seidman, D. R. Smith. John Wiley & Sons, Inc., New York, NYUSA 1995; 2: 9.8.1–9.8.12
   Google Scholar
• Lin S. F., Liu T. C., Chen T. P., Chiou S. S., Liu H. W., Chang J. G. Diagnosis of thalassaemia by non-isotope detection of α/β and ζ/α mRNA ratios. Br. J. Haematol. 1994; 87: 133–138
   PubMedGoogle Scholar
• Hall G. W., Thein S. L. Nonsense codon mutations in the terminal exon of the β-globin gene are not associated with a reduction in β-mRNA accumulation: a mechanism for the phenotype of dominant β-thalassemia. Blood 1994; 83: 2031–2037
   PubMed Web of Science ®Google Scholar
• Coleman M. B., Lu Z- H., Smith C. M., II, Adams J. G., III, Harrell A., Plonczynski M., Steinberg M. H. Two missense mutations in the β-globin gene can cause severe β thalassemia. J. Clin. Invest. 1995; 95: 503–509
   PubMed Web of Science ®Google Scholar
• Arjona S. N., Eloy-Garcia J. M., Gu L-H., Smetanina N. S., Huisman T. H.J. The dominant β-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon (=arginine) at the 5′ end of the second exon. Br. J. Haematol. 1996; 93: 841–844
   PubMed Web of Science ®Google Scholar
• Faustino P., Osorio-Almeida L., Romao L., Barbot J., Fernandes B., Justica B., Lavinha J. Dominantly transmitted β-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide. Blood 1998; 91: 685–690
   PubMed Web of Science ®Google Scholar
• Ho P. J., Wickramasinghe S. N., Rees D. C., Lee M. J., Eden A., Thein S. L. Erythroblastic inclusions in dominantly inherited β thalassemias. Blood 1997; 89: 322–328
   PubMed Web of Science ®Google Scholar
• Plaseska D., Wilson J. B., Gu L-H., Kutlar F., Huisman T. H.J., Zeng Y-T., Shen M. Hb Zengcheng or α2β2114(G16)Leu→Met. Hemoglobin 1990; 14(5)555–557
   PubMed Web of Science ®Google Scholar
• Lacan P., Aubry M., Francina A., Lachaux A. Hb Zengcheng [β114(G16)Leu→Met] in a Cambodian family. Hemoglobin 1997; 21(4)363–367
   PubMed Web of Science ®Google Scholar
• Beris Ph., Miescher P. A., Diaz-Chico J. C., Han I-S., Kutlar A., Hu H., Wilson J. B., Huisman T. H.J. Inclusion-body β-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended β chain carboxyterminus due to a modification in codon β114. Blood 1988; 72: 801–805
   PubMed Web of Science ®Google Scholar