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Publication Metadata only Hemoglobinopathies in Southeast Asia: Molecular Biology and Clinical Medicine(1997-01-01) Suthat Fucharoen; Pranee Winichagoon; Mahidol UniversityPublication Metadata only Hb Kodaira II [β146(HC3)His→Gln] detected in Thailand(2003-03-01) Lukana Ngiwsara; Chantragan Srisomsap; Pranee Winichagoon; Suthat Fucharoen; Jisnuson Svasti; Chulabhorn Research Institute; Mahidol UniversityPublication Metadata only Repair of a splicing defect in erythroid cells from patients with β-thalassemia/HbE disorder(2002-12-01) Thipparat Suwanmanee; Halina Sierakowska; Suthat Fucharoen; Ryszard Kole; The University of North Carolina at Chapel Hill; Mahidol University; Institute of Biochemistry and Biophysics of the Polish Academy of SciencesA HeLa cell line stably expressing the human β-globin gene carrying thalassemic mutations βE/IVS1-6 served as a thalassemia model for repair of aberrant splicing of ΒE/IVS1-globin pre-mRNA with antisense oligonucleotides. Treatment of βE/IVS1-6 HeLa cells with a morpholino oligonucleotide targeted immediately upstream of the aberrant 5′ splice site activated by the mutations resulted in an increase in the amount of correctly spliced βE-globin mRNA in a dose-dependent and sequence-specific fashion. The repaired βE-globin mRNA was stable and could be translated into full-length βE-globin polypeptide. Application of the same oligonucleotide to erythroid progenitor cells from two β-thalassemia/HbE patients resulted in an approximately 70% increase in correct βE-globin mRNA and 36% increase in hemoglobin E. The erythroid progenitor cells represent the actual targets for the clinical application of antisense repair of defective pre-mRNAs.Publication Metadata only α- and β-Thalassemia in Thailand(1998-01-01) Suthat Fucharoen; Pranee Winichagoon; Noppadol Siritanaratkul; Jew Chowthaworn; Pensri Pootrakul; The Institute of Science and Technology for Research and Development, Mahidol University; Mahidol UniversityPublication Metadata only Non-transfusion-dependent thalassemia: A complex mix of genetic entities yet to be fully discovered(2015-01-01) Paolo Ricchi; Aldo Filosa; Aurelio Maggio; Suthat Fucharoen; Azienda Ospedaliera Di Rilievo Nazionale Antonio Cardarelli; Ospedali Riuniti Villa Sofia-Cervello; Mahidol UniversityPublication Metadata only New updating into hemoglobinopathies(2012-01-01) Suthat Fucharoen; P. Winichagoon; Mahidol UniversityThalassemia and abnormal hemoglobin are the most common genetic disorders and are considered health problems in many developing countries. In the last few years, there has been much progress in laboratory diagnosis, treatment and control of thalassemia. The variation in the clinical severity in both a- and b-thalassemia reflects a genotype-phenotype interaction. This is important for future therapeutic intervention and should be well characterized in each population. The quality of life of the patients is much improved with regular blood transfusion and novel iron chelators. The cure for thalassemia is possible by stem cell transplantation and future gene therapy. It is expected that under multinational collaboration the prevention of thalassemia will happen worldwide. © 2012 Blackwell Publishing Ltd.Publication Metadata only The hemoglobin E thalassemias(2012-01-01) Suthat Fucharoen; David J. Weatherall; The Institute of Science and Technology for Research and Development, Mahidol University; Weatherall Institute of Molecular MedicineHemoglobin E (HbE) is an extremely common structural hemoglobin variant that occurs at high frequencies throughout many Asian countries. It is a β-hemoglobin variant, which is produced at a slightly reduced rate and hence has the phenotype of a mild form of β thalassemia. Its interactions with different forms of α thalassemia result in a wide variety of clinical disorders, whereas its coinheritance with β thalassemia, a condition called hemoglobin E β thalassemia, is by far the most common severe form of β thalassemia in Asia and, globally, comprises approximately 50% of the clinically severe β-thalassemia disorders. © 2012 Cold Spring Harbor Laboratory Press all rights reserved.Publication Metadata only Detection of β-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique(1989-07-01) Pranee Winichagoon; Jiraporn Kownkon; Pathai Yenchitsomanus; Varaporn Thonglairoam; Nopadol Siritanaratkul; Suthat Fucharoen; Mahidol UniversityEnzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing β-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electrophoresis and ethidium bromide staining. Whereas the nonsense mutations at codon 17 (AAG →TAG) and Hb E (GAG→AAG at codon 26) were detected after digestion of the amplified DNA with the enzymes MaeI and MnlI, respectively. © 1989 Springer-Verlag.Publication Metadata only Molecular basis of βo-thalassemia/HbE disease in Thailand(1989-07-31) Songsak Petmitr; Prapon Wilairat; Jiraporn Kownkon; Pranee Winichagoon; Suthat Fucharoen; Mahidol University; Faculty of Medicine, Thammasat UniversityThe molecular basis of β o -thalassemia/HbE disease in 30 Thai patients was investigated using DNA amplification and dot-blot hybridization with a number of allele specific oligonucleotide probes. The mutations identified were 17 cases of 4 base-pair deletion at codons 41-42, 4 cases of amber mutation at codon 17, and one case each of an ochre mutation at codon 35, a single base substitution at position 5 of IVS-1, and a single base substitution at position 654 of IVS-2. © 1989.Publication Metadata only Double heterozygosity for Hb Pyrgos [β83(EF7)Gly→Asp] and Hb E [β26(B8)Glu→Lys] found in association with α-thalassemia(2002-07-27) Phannee Sawangareetrakul; Saovaros Svasti; Boonpa Yodsowon; Pranee Winichagoon; Chantragan Srisomsap; Jisnuson Svasti; Suthat Fucharoen; Chulabhorn Research Institute; The Institute of Science and Technology for Research and Development, Mahidol University; Vajira Hospital; Mahidol University