TY - JOUR
T1 - Towards a prevention program for β-thalassemia. the molecular spectrum in East Java, Indonesia
AU - Hernanda, Pratika Yuhyi
AU - Tursilowati, Luluk
AU - Arkesteijn, Sandra G.J.
AU - Ugrasena, I. Dewa Gede
AU - Larasati, Marian C.Shanty
AU - Soeatmadji, Sentot Mustajab
AU - Giordano, Piero C.
AU - Harteveld, Cornelis L.
N1 - Funding Information:
The authors gratefully acknowledge the support of the Wijaya Kusuma University Surabaya foundation and Hematology Laboratory, Child Health Department, Dr. Soetomo Hospital Surabaya, Indonesia. We also are particularly grateful to all colleagues of the Hemoglobinopathies Laboratory at Leiden University, Leiden, The Netherlands, for their valuable support.
PY - 2012/2
Y1 - 2012/2
N2 - 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.
AB - 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.
KW - East Java
KW - Indonesia
KW - Prevention
KW - β-Thalassemia (β-thal)
UR - http://www.scopus.com/inward/record.url?scp=84855696297&partnerID=8YFLogxK
U2 - 10.3109/03630269.2011.642914
DO - 10.3109/03630269.2011.642914
M3 - Article
C2 - 22188014
AN - SCOPUS:84855696297
SN - 0363-0269
VL - 36
SP - 1
EP - 6
JO - Hemoglobin
JF - Hemoglobin
IS - 1
ER -