First Spanish Case Of Thalassemia Major Due to a Compound Heterozygosity for the IVS-II-848 (C→A) And Codon 39 (C→T) Mutations Of The β-Globin Gene

REFERENCES

• Weatherall DJ, Clegg JB. The Thalassaemia Syndromes4th. Blackwell Scientific Publications, Oxford 2001
   Google Scholar
• Wainscoat JS, Thein SL, Weatherall JD. Thalassemia intermedia. Blood Rev 1987; 1(4)273–279, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Thein SL, Al-Hakim I, Hoffbrand AV. Thalassaemia intermedia: a new molecular basis. Br J. Haematol. 1984; 56(2)333–337, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Thein SL. Dominant β-thalassaemia: molecular basis and pathophysiology. Br J. Haematol. 1992; 80(3)273–277, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• McDonagh KT, Nienhuis AW. Disorders of hemoglobin. The thalassemias. Hematology of Infancy and Childhood4th, D Nathan, FA Oski. W.B. Saunders Company, Philadelphia 1993; 783–789
   Google Scholar
• International Committee for Standardization in Hematology. Recommendations for select methods for quantitative estimation of Hb A2 and for Hb A2 reference preparation. Br J. Haematol. 1978; 38(4)573–578
   PubMed Web of Science ®Google Scholar
• Betke K, Marti HR, Schlicht I. Estimation of small percentages of foetal haemoglobin. Nature 1959; 184(Suppl 24)1877–1878, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• 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, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassaemia studies in Indian and Cypriot populations in the UK. Lancet 1990; 336(8719)834–837, [PUBMED], [INFOTRIEVE], [CROSSREF]
   PubMed Web of Science ®Google Scholar
• Villegas A, Ropero P, González FA, Armada B, Martí B, Carreño DL, Sánchez J. Molecular heterogeneity of β-thalassaemia in a Spanish population from the area centre of Spain. Eur J Hematol 1996; 57(5)389–391
   PubMed Web of Science ®Google Scholar
• Myers R, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155(11)501–527, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Wartell RM, Hosseini SH, Moran CP, Jr. Detecting base pair substitutions in DNA fragments by temperature-gradient gel electrophoresis. Nucleis Acids Res 1990; 18(9)2699–2705
   PubMedGoogle Scholar
• Rund D, Filon D, Strauss N, Rachmilewitz EA, Oppenheim A. Mean corpuscular volume of heterozygotes for β-thalassaemia correlates with the severity of mutations. Blood 1992; 79(1)238–243, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• Akar N, Özden A, Akar E, Cin S, Arcasoy A. Discrimination of the Hb D Los Angeles (β121 Glu→Gln) and Hb Beograd (β121 Glu→Val) by dual restriction enzyme analysis. Am J Hematol 1995; 48(4)280–281, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Varawalla NY, Fitches AC, Old JM. Analysis of β-globin gene haplotypes in Asian Indians: origin and spread of β-thalassemia on the Indian subcontinent. Hum Genet 1992; 90(4)443–449, [PUBMED], [INFOTRIEVE], [CROSSREF]
   PubMed Web of Science ®Google Scholar
• Wainscoat JS, Hill AVS, Boyce AL, Flint J, Hernandez M, Thein SL, Old JM, Lynch JR, Falusi AG, Weatherall DJ, Clegg JB. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature 1986; 319(6053)491–493, [PUBMED], [INFOTRIEVE], [CROSSREF]
   PubMedGoogle Scholar
• Hill AVS, O'Shaughnessy DF, Clegg JB. Haemoglobin and globin gene variants in the Pacific. The Colonization of the Pacific: a Genetic Trail, AVS Hill, SW Serjeantson. Oxford Scientific Publications, Clarendon Press, Oxford 1989; 246–285
   Google Scholar
• Orkin SH, Kazazian HH, Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV. Linkage of β-thalassaemic mutations and β-globin gene polymorphisms with DNA polymorphisms in the human β-globin gene. Nature 1982; 296(5858)627–631, [PUBMED], [INFOTRIEVE], [CROSSREF]
   PubMed Web of Science ®Google Scholar
• Camaschella C, Serra A, Saglio G, Baiget M, Mulgaretti N, Mantovani R, Ottolenghi S. The 3′end of Spanish δβ-thalassaemia and black HPFH1 and 2 lies within 17 kb. Blood 1987; 70(2)593–596, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Villegas A, Pérez-Clausell A, Sánchez A, Sal del Río E. A new case of thalassemia intermedia: interaction of a triplicated α-globin locus and β-thalassemia trait. Hemoglobin 1992; 16(1&2)99–101, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Ortega JJ, Baiget M, Aulesa C, Alonso L. Síndrome de anemia de Cooley en doble heterocigoto de hemoglobina Lepore Boston y β-talasemia. Med Clin (Barc) 1984; 83(17)717–720
   PubMedGoogle Scholar
• Casado A, Pellicer A, Olmeda F, Hors P, González-Soto A, Carmona MS, López-Fernández MEl. Double heterozygosis for HbC-β-thalassemia: description of a Spanish family. Clin Genet 1978; 13(3)265–270, [PUBMED], [INFOTRIEVE]
   PubMedGoogle Scholar
• Ropero P, González FA, Sánchez J, Armada B, Martí E, Valdés B, Mora A, Villegas A. Asociación de β0-talasemia y Hb D-Punjab en una familia de origen hindú. Segundo caso descrito en España. Med Clin (Barc) 1997; 108(10)385–388
   PubMedGoogle Scholar
• González FA, Ropero P, Sánchez J, Rosatelli C, Galanello R, Villegas A. C→T mutation at –158 Gγ HPFH associated with 4 bp deletion (–225-222) in the promoter region of the Aγ gene in homozygous β039 nonsense thalassaemia. Haematologica 1999; 84(1)90–91
   PubMedGoogle Scholar
• González-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Huisman THJ. Clinical and genetic heterogenety in Black patients with homozygous β-thalassemia from the Southeastern United States. Blood 1988; 72(3)1007–1014
   PubMed Web of Science ®Google Scholar
• Wong C, Antonarakis SE, Goff SC, Orkin SH, Forget BG, Nathan DG, Giardina PJV, Kazazian HH, Jr. β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β-globin gene. Blood 1989; 73(4)914–918, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• Kattamis C, Hu H, Cheng G, Reese AL, González-Redondo JM, Kutlar A, Kutlar F, Huisman THJ. Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major. Br J Hematol 1990; 74(3)342–346
   PubMed Web of Science ®Google Scholar
• Kazazian HH, Jr. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990; 27(3)209–228, [PUBMED], [INFOTRIEVE]
   PubMed Web of Science ®Google Scholar
• Galanello R. Molecular basis of thalassemia major. Int J Pediatr Hematol Oncol 1995; 2(2)383–396
   Google Scholar
• Modell CB, Berdonkas VA. The Clinical Approach to Thalassemia. Grune & Stratton, New York 1981
   Google Scholar