176 2005-01 Title: Performance Characteristics of Quality Control Material KKU-Hb for Thalassemia Diagnosis Authors: Siripakorn Sangkitporn*, Sutudsanee Vimolsarte**, Boonnipa Songkharm***, Khwanchai Wangkahat****, Ativet Savetadul*****, Phanthipa Sriviroonchote******, Amara Yowang*******, Ornchira Supangwiput*, Somchai Sangkitporn* Affiliations: *National Institute of Health **Regional Medical Science Center Khonkaen ***Regional Medical Science Center Udonthani ****Regional Medical Science Center Ubonratchathani *****Regional Medical Science Center Trang ******Regional Medical Science Center Suratthani *******Regional Medical Science Center Chiangrai Source: Journal of Health Science 2005; 14: 24-33 Language: Thai with English abstract Abstract: The accurate and reliable measurement of hemoglobin separation and determination is essential for thalassemia diagnosis. The validation of quality control material KKU-Hb by characterization of their homogeneity and their stability in storage during April to June 2004 was described. HPLC and LPLC instruments were used for hemoglobin separation and Hb A2 determination. Results of homogeneity study showed that KKU-Hb had small coefficient of variation ranging between 1.43-4.58% and 4.27-5.56% for intralaboratory study and interlaboratory study, respectively. These materials could be stored at –6oC for 2 months without significant decrease in Hb A2 level (t-test, p>0.05). In conclusion, the validation, homogeneity and stability of KKU-Hb support their use as quality control material for measurement of hemoglobin separation and determination by HPLC and LPLC instruments. 177 2005-02 Title: Development of Laboratory Network for the National Prevention and Control Program of Thalassemia Authors: Suphan Srithamma*, Siripakorn Sangkitporn*, Somchai Sangkitporn* Affiliations: *Department of Medical Sciences, Ministry of Public Health Source: Journal of Health Science 2005; 14: 34-44 Language: Thai with English abstract Abstract: Laboratory network is crucial in a national prevention and control program of thalassemia. Throughout Thailand, 13 laboratories of the Department of Medical Sciences have undergone a capacity building program forming a national network for hemoglobin (Hb) separation and determination and α-thalassemia 1 diagnosis. During 2001-2004, the service, measured in terms of number of samples, expanded threefold from 4,027 to 12,840. Under internal and external quality assurance program, its reliability was maximized. Within 4 years, reliable, efficient and effective laboratory service and co-operation were established as a supporting mechanism of the national prevention and control program of thalassemia. 178 2005-03 Title: Molecular characterization of alpha- and beta-globin genes in Thailand by fluorescence- based DNA sequence analysis Authors: Siripakorn K. Sangkitporn*, Sawitree Duangrueng*, Somchai Sangkitporn* Affiliations: *National Institute of Health, Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand Source: International Journal of Clinical Chemistry and Applied Molecular Biology 2005; 355: S166 Language: English Abstract: The thalassemias and hemoglobinopathies are the most common inherited human diseases. Up to now more than 500 mutations concerning with thalassemias and hemoglobinopathies have been reported. In this study we have used fluorescence-based DNA sequence analysis coupled with advanced analysis software to rapid detection of alpha- and beta-globin gene mutations in Thai patients. 23 differents mutions of beta-globin gene and 4 different mutations of alpha-globin gene have been identified in 956 patients. Among these 23 beta-globin gene mutations, 12 of them (–31, -30, -28, codon 17, codon 19, codon 35, codon 43, codon 41- 42, codon 71-72, IVS 1# 1, IVS 1# 5 and IVS 2 # 654) lead to beta-thalassemia and the others 11 mutations lead to abnormal Hb (Hb E, Hb C, Hb Tak, Hb Pyrgos, Hb S, Hb G Makassar, Hb Hope, Hb J-Bangkok, Hb Tacoma, Hb Korle-Bu and Hb Dhonburi). For 4 alpha-globin gene mutations, 2 of them lead to alpha-thalassemia 1 (SEA deletion and Thai deletion) and the others two mutations lead to abnormal Hb (Hb CS and Hb Q- Thailand). This fluorescence-based DNA sequence analysis is a rapid and reliable method for detection of point mutations and small deletions or insertions in both heterozygous and homozygous states. In conclusion this approach is particularly effective for identification of alpha- and beta-globin gene mutations that finally support the prevention and control of thalassemia in our country. 179 2005-04 Title: Maternal serum screening for Down syndrome in Thai pregnant women Authors: S. Sangkitporn*, S. Lamlerkittikul*, S.K. Sangkitporn*, V. Chandeying* Affiliations: *National Institute of Health, Department of Medical Sciences, Nonthaburi, Thailand Source: Clin Chim Acta 2005; 355: S316 Language: English Abstract: Down syndrome is one of the most important causes of mental retardation in the population. The main aim of this pilot study was to evaluate the sensitivity of maternal serum screening (triple test) to identify women at an increased risk for an affected pregnancy and to reduce the incidence of invasive amniocentesis procedures. Triple test involes combining the maternal age risk with the risks associated with the concentrations of maternal serum alpha- fetoprotein, unconjugated estriol, and human chorionic gonadotropin that are measured by a chemiluminescence immunoassay method. The study consisted of 1000 pregnant women, attending antenatal care unit, Hat Yai Center Hospital. The gestational range for the study group was 14-19 weeks. 171 of these women were considered at increased risk for Down syndrome and 141 of them had an amniocentesis. Among 199 pregnant women over 35 years of age, 93 of them were triple test positive. The results of karyotyping show that there were 4 cases with trisomy 21, 1 case with 47 XXX and 1 case with chromosome translocation. All these chromosome abnormalities were detected in pregnant women over 35 years of age. In conclusions, the use of triple test as a screening tool in our population could reduce the number of amniocenteses, while no cases of Down syndrome would be missed. 180 2005-05 Title: Probable person-to-person transmission of avian influenza A (H5N1) Authors: Ungchusak K*, Auewarakul P, Dowell SF, Kitphati R**, Auwanit W**, Puthavathana P*,Uiprasertkul M, Boonnak K, Pittayawonganon C, Cox NJ, Zaki SR, Thawatsupha P**, Chttaganpitch M**, Knontong R, Simmerman JmM, Chunsuttiwat S Affiliations: *Bureau of Epidemiology, Department of Disease Control, Thai Ministry of Public Health, Nonthaburi, Thailand ** National Institute of Health, Department of Medical Sciences, Nonthaburi, Thailand Source: N Engl J Med. 2005 Jan 27; 352(4): 333-40. Epub 2005 Jan 24 Language: Thai with English abstract Abstract: During 2004, a highly pathogenic avian influenza A (H5N1) virus caused poultry disease in eight Asian countries and infected at least 44 persons, killing 32; most of these persons had close contact with poultry. No evidence of efficient person-to-person transmission has yet been reported. We investigated possible person-to-person transmission in a family cluster of the disease in Thailand. METHODS: For each of the three involved patients, we reviewed the circumstances and timing of exposures to poultry and to other ill persons. Field teams isolated and treated the surviving patient, instituted active surveillance for disease and prophylaxis among exposed contacts, and culled the remaining poultry surrounding the affected village. Specimens from family members were tested by viral culture, microneutralization serologic analysis, immunohistochemical assay, reverse-transcriptase-polymerase- chain-reaction (RT-PCR) analysis, and genetic sequencing. RESULTS: The index patient bacame ill three to four days after her last exposure to dying household chickens. Her mother came from a distant city to care for her in the hospital, had no recognized exposure to poultry, and died from pneumonia after providing 16 to 18 hours of unprotected nursing care. The aunt also provided unprotected nursing care; she had fever five days after the mother first had fever, followed by pneumonia seven days later. Autopsy tissue from the mother and nasopharyngeal and throat swabs from 181 the aunt were positive for influenza A (H5N1) by RT-PCR. No additional chains of transmission were identified, and sequencing of the viral genes identified no change in the receptor-binding site of hemagglutinin of other key features of the virus. The sequences of all eight viral gene segments clustered closely with other H5N1 sequences from recent avian isolates in Thailand. CONCLUSIONS: Disease in the mother and aunt probably resulted from person-to-person transmission of this lethal avian influenza virus during unprotected exposure to the critically ill index patient. Copyright 2005 Massachusetts Medical Society. 182 2005-06 Title: Molecular characterization of the complete genome of human influenza H5N1 virus isolates from Thailand Authors: Puthavathana P*, Auewarakul P*, Charoenying PC*, Sangsiriwut K*, Pooruk P*, Boonnak K*, Khanyok R*, Thawachsupa P**, Kijphati R**, Sawanpanyalert P** Affiliations: *Department of Microbiology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand ** National Institute of Health, Department of Medical Sciences, Nonthaburi ,Thailand Source: J Gen Virol. 2005 Feb; 86(Pt 2): 423-33 Language: Thai with English abstract Abstract: The