title: Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia.
abstract: Defining the spectrum of specific thalassemia mutations is an important issue when planning prevention programs in large multi ethnic countries as is Indonesia. In a first attempt to define the prevalence of the common mutations in East Java we selected a cohort of 17 transfusion-dependent patients attending the Dr. Soetomo Hospital, Surabaya, Indonesia. After basic diagnostics we performed direct DNA sequencing for all β-globin genes. The results obtained on 34 independent chromosomes revealed the following prevalence rates: c.79 G>A p. Glu27Lys (Hb E) 47.0%; c.92+5G>C (IVS-I-5 G>C) 20.6%; c.109_110 delC p.Pro37Leu fs X7 [codon 35 (-C)] 17.6%; c.46del T p.Trp16Gly fsX4 [codon 15 (-T)] 5.9%; c.126_129delCTTT p. Phe42Leu fs X19 (codons 41/42) 2.9%; c.316-197 C>T [IVS-II-654 (C>T)] 2.9%; c*112 A>G (PolyA) 2.9%. Our preliminary results show that the distribution of the prevalent mutations in our cohort is quite homogeneous but with different forms than previously reported. This indicates that more studies on a larger scale and in different geographical areas are needed to refine our provisional results and to characterize the molecular background of the disease in the whole country.
authors.affiliation: Medical Genetics Department, Wijaya Kusuma University, Surabaya, Indonesia.
authors.forename: Pratika Yuhyi
authors.initials: PY
authors.lastname: Hernanda
authors.forename: Luluk
authors.initials: L
authors.lastname: Tursilowati
authors.forename: Sandra G J
authors.initials: SG
authors.lastname: Arkesteijn
authors.forename: I Dewa Gede
authors.initials: ID
authors.lastname: Ugrasena
authors.forename: Marian C Shanty
authors.initials: MC
authors.lastname: Larasati
authors.forename: Sentot Mustajab
authors.initials: SM
authors.lastname: Soeatmadji
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006801:Humans; D007214:Indonesia; D008297:Male; D009154:Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000517:prevention & control*
chemical_list: D055544:beta-Globins