Supan Fucharoen - Academia.edu (original) (raw)
Papers by Supan Fucharoen
Clinical laboratory, 2015
BACKGROUND Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a mutation at codon 91 of α1-globi... more BACKGROUND Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a mutation at codon 91 of α1-globin gene whereas Hb E is a common β-globin chain variant among Southeast Asian population. We report two hitherto undescribed conditions of Hb Grey Lynn found in Thai individuals. METHODS The study was done on two unrelated Thai subjects. Hematological parameters were recorded and Hb analysis was carried out using automated Hb analyzers. Mutations were identified by DNA analysis. Hematological features of the patients were compared with those of various forms of Hb Grey Lynn documented previously. RESULTS Hb and DNA analyses identified a heterozygous Hb Grey Lynn in one patient and a double heterozygous Hb Grey Lynn and Hb E with α(+)-thalassemia in another. Interaction of α(Grey Lynn) with β(E) chains leads to the formation of a new Hb variant, namely the Hb Grey Lynn E (α(GL)2β(E)2), detectable by liquid chromatography (10.3%) but masked by Hb E on capillary electrophoresis. CONCLUSIONS ...
Introduction: Elevated hemoglobin (Hb) A2 is an important diagnostic marker for β-thalassemia car... more Introduction: Elevated hemoglobin (Hb) A2 is an important diagnostic marker for β-thalassemia carriers. However, diagnosis of cases with borderline Hb A2 may be problematic. We described the molecular characteristics found in a large cohort of Thai subjects with borderline Hb A2. Material and methods: Examination was done on 21,657 Thai subjects investigated for thalassemia at Khon Kaen University, Thailand. A total of 202 subjects with borderline Hb A2 (3.5–4.0%) were selectively recruited and hematological parameters were recorded. DNA variants in α-, β-, δ-globin, and Krüppel-like factor 1 (KLF1) genes were examined using PCR. Results: Among 202 subjects, DNA analysis identified carriers of α+-thalassemia (n = 48; 23.8%), β-thalassemia (n = 22; 10.9%) and KLF1 mutations (n = 48; 23.8%). No molecular defect was observed in the remaining 84 subjects (41.5%). Interaction of KLF1 and α-thalassemia was observed in 10 cases. Of the 22 β-thalassemia carriers, five β+-thalassemia mutatio...
The American Journal of Clinical Nutrition
Background: It is customary in Southeast Asia to treat pregnant anemic women with iron supplement... more Background: It is customary in Southeast Asia to treat pregnant anemic women with iron supplements, but anemia in this region may be complicated by thalassemia and hemoglobinopathies, which lead to an ineffective response. Objective: The aim was to determine whether routine iron supplementation during pregnancy in this area, which has a high prevalence of thalassemia and hemoglobinopathies, is an effective control strategy for iron deficiency anemia. Design: A prospective study was conducted. Seventy-six pregnant women, including 43 who were heterozygous for the hemoglobin E (Hb E) gene, 20 who were heterozygous for Hb E and had ␣-thalassemia, and 13 who were homozygous Hb E, as well as 77 pregnant women who had no thalassemia gene, participated in this investigation. All pregnant women received a daily dose of 120 mg elemental Fe for an average of 133.5 d. Hematologic variables and serum ferritin concentrations were measured before supplementation and after supplementation at the gestational age of 28-32 wk. Differences in hematologic variables and serum ferritin were assessed. Results: Significant differences in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin responses were found between the nonthalassemia group and the 3 groups with the Hb E gene after adjustment for the following baseline values: age, body mass index, duration of iron supplementation, and ferritin concentration. Significant differences in the improvements in mean corpuscular volume and mean corpuscular hemoglobin values between the 3 groups indicate a poorer response at the cellular level in the pregnant women with the Hb E gene. Further analysis showed a significant difference in the hemoglobin response only for women who were homozygous for Hb E. Conclusion: Iron supplementation during pregnancy is not beneficial for pregnant women who are homozygous for Hb E, but a routine intervention should not cause iron overload, as judged from this short observation period.
Annals of human biology, Jan 19, 2017
Haemoglobin (Hb) E is the most common Hb variant in Asia where its gene frequency approaches 0.3 ... more Haemoglobin (Hb) E is the most common Hb variant in Asia where its gene frequency approaches 0.3 in some areas. We studied genetic background of Hb E genes among Southeast Asian populations. This study examined β-globin gene haplotypes linked to haemoglobin E (Hb E) in diverse groups of Southeast Asian populations. The study was conducted on southern Thai (22 alleles), Cambodian (84 alleles), Laotian (120 alleles), Vietnamese (87 alleles) and Burmese (one allele) subjects. Results were compared with those of previous studies in northeast Thailand, the Yunnan of China, West India and Europe. Ten different haplotypes were observed. The four most common haplotypes were haplotypes 1 (- + - + + + -) and 2 (+ - - - - + -) on chromosomes with framework 2 and haplotypes 6 (- + - + + - +) and 7 (+ - - - - - +) on chromosomes with framework 3 variety. Phylogenetic analysis indicated that haplotype 1 is a relatively recent haplotype found in all populations, whereas haplotype 6 is found predom...
Hematology
Introduction: Thalassemia-related complications are one of the main factors that increase morbidi... more Introduction: Thalassemia-related complications are one of the main factors that increase morbidity and mortality in aging patients with thalassemia. This study was aimed to report the prevalence and clinical risk factors for the complications in thalassemia. Methods: A multi-center prospective cohort study was conducted in patients with thalassemia aged ≥10 years old. Thalassemia-related complications were heart failure, pulmonary hypertension, extramedullary hematopoiesis, endocrine disorders, infections, thrombosis and leg ulcers. The clinical parameters significantly associated with the complications were analyzed by logistic regression methods. Results: The prevalence of thalassemia-related complications was 60.5% in patients with transfusion-dependent thalassemia (TDT) and 43% in patients with non-transfusiondependent thalassemia (NTDT). Splenectomy was statistically associated with complications in both TDT and NTDT patients (adjusted odds ratio (AOR) = 7.4, p-value = 0.0001 and AOR = 2.6, p-value = 0.001). Age ≥50 years old (AOR = 2.9, p-value = 0.04) and female gender (AOR = 0.5, p-value = 0.03) were statistically associated with the complications in patients with NTDT. Conclusion: Nearly half of the patients in this cohort had disease-related complications. Splenectomy and advanced age were important factors for complication involvement. Early screening for the complications may reduce the morbidity and mortality in patients with thalassemia.
American journal of human genetics, Jan 6, 2017
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sic... more A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 (HBG1) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy individuals as an ameliorating...
Journal of community genetics, Jan 11, 2017
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe t... more Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority. Hemoglobin and DNA analyses were carried out to diagnose thalassemia and hemoglobinopathies. Of the total participants, 56.1% (95% CI = 51.1-61.1) carried thalassemia genes. A remarkably high frequency of hemoglobin Constant Spring (Hb CS) of 23.8% (95% CI = 19.7-28.4) was noted. The frequency of α(+)-thalassemia (-3.7 kb deletion) was 26.4% (95% CI = 22.1-31.1), while hem...
The Southeast Asian Journal of Tropical Medicine and Public Health, Feb 1, 1997
Hemoglobin E and alpha-thalassemia are prevalent in Thailand. The chance that an individual heter... more Hemoglobin E and alpha-thalassemia are prevalent in Thailand. The chance that an individual heterozygous for HbE also carries an alpha-thalassemia determinant is high. In this individual, the amount of HbE and other hematological parameters may be differed from that of usual observation. In this study, a total of 132 HbE heterozygotes were screened for alpha-thalassemia 1 gene deletion by the polymerase chain reaction. Out of 132 cases, 71 could be completely analyzed for hematologic parameters. Forty-three of 88 cases with HbE less than 25% as measured using microcolumn chromatography were positive for this gene deletion. In twenty of these 43 alpha-thalassemia 1 positive cases, the average values of Hb, Hct, MCV, MCH, MCHC, RDW and HbE were 10.6 g/ dl, 33.1%, 64.8 fl, 21.0 pg, 32.3 pg/dl, 18.6% and 17.4%, respectively. Eight of 9 alpha-thalassemia 1 negative cases were positive for alpha-thalassemia 2 gene deletion in Southern blot analysis. In this later group, hematological parameters were similar to that of the former. Co-inheritance of the Hb Constant Spring gene has no direct effect on the level of HbE. No alpha-thalassemia 1 gene was detected in the remaining 34 cases whose HbE were above 25%. The average amount of Hb, Hct, MCV, MCH, MCHC, RDW and HbE were 12.4 g/dl, 37.7%, 79.7 fl, 26.2 pg, 32.7 pg/dl, 25.8% and 28.5%, respectively. Therefore, screening for HbE level below 25% may be a convenient way of identifying parents of carrying alpha-thalassemia 1 determinant.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, 2006
Ann Hematol, 2006
We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various for... more We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various forms of α-thalassemia in Thai individuals. Altogether, 131 unrelated adult subjects with Hb EE at routine Hb analysis were studied. Forty-two cases were found to carry α-thalassemia with ten different genotypes. These included 21 cases with α +-thalassemia heterozygote (-α 3.7 /αα), one case with α +-thalassemia heterozygote (-α 4.2 /αα), six cases with Hb Constant Spring heterozygote (α CS α/αα), four cases with homozygous α +thalassemia (-α 3.7 /-α 3.7), one case with homozygous α +-thalassemia (-α 4.2 /-α 4.2), two cases with compound α +-thalassemia/Hb Constant Spring (-α 3.7 /α CS α), one case with compound α +-thalassemia/Hb Paksé (-α 3.7 /α PS α), four cases with α 0-thalassemia heterozygote (-SEA /αα), and, unexpectedly, two cases with compound α 0-thalassemia/α +-thalassemia [(-SEA /-α 3.7) and (-SEA /-α 4.2)]. The hematological expression of these Hb E homozygotes with various forms of αthalassemia was presented comparatively with those of the 89 cases of pure Hb E homozygotes. Overlapping levels of Hb E, Hb F, and other hematological parameters were observed which did not predict clinical severity, indicating a need for α-globin gene analysis for accurate diagnosis and improved genetic counseling.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Dec 4, 2012
Clinica Chimica Acta, Aug 31, 2003
Background: In order to provide a reliable non-invasive method for fetal sex determination in a r... more Background: In order to provide a reliable non-invasive method for fetal sex determination in a routine setting, we evaluated the possibility of identifying the fetal Y chromosome-specific sequence in maternal plasma using conventional PCR analysis. Methods: Fetal gender was determined in 31 pregnant women including one with a dizygotic twin pregnancy between 7 and 32 weeks of gestation using DNA extracted from 200 Al of each maternal plasma. The 198 bp SRY gene-specific sequence on Y chromosome and the 261 bp ATL1 gene-specific sequence on X chromosome were co-amplified in a multiplex nested PCR manner. The result was confirmed by routine analysis of fetal tissue obtained by invasive procedure or examination of newborns after delivery. Results: The 198 bp SRY-specific sequence was detected in 15 plasma samples obtained from pregnant women carrying male fetuses. In the remaining cases bearing female fetuses, only the 261 bp ATL1 gene sequence was detected, producing 100% sensitivity and specificity of fetal sex prediction. The result was completely concordant with the conventional fetal tissue analysis and examination of the newborns after delivery. Conclusions: A conventional nested PCR analysis of maternal plasma could be used for accurate fetal gender detection and enable a reliable prospective non-invasive fetal sex determination which should enhance prenatal diagnostic options especially for sex-linked disorders.
Translational Research, 2007
To establish simple noninvasive prenatal diagnosis of common beta-thalassemia in Southeast Asia, ... more To establish simple noninvasive prenatal diagnosis of common beta-thalassemia in Southeast Asia, we have evaluated the possibility of identifying the 3 most common beta-thalassemia genes [beta(E), beta(17A-T), and beta(41/42(-CTCC))] by analysis of fetal DNA in maternal plasma using combined conventional polymerase chain reaction (PCR) and real-time quantitative PCR. Maternal plasma was obtained from peripheral blood of Thai pregnant women collected during the first and second trimesters of gestation. DNA was prepared from 200 microL plasma using a QIAmp Blood Mini Kit. Identifications of the beta(E), beta(41/42(-CTTT)), and beta(17A-T) in plasma DNA were carried out using semi-nested (for beta(E)) and nested (for beta(41/42) and beta(17)) real-time allele-specific PCR methodologies, and the results were compared with those obtained on fetal tissue analysis with routine invasive procedure. Twenty-six fetal beta(E) genes were correctly identified by maternal plasma DNA analysis of 39 pregnant women investigated. The fetal beta(41/42) and beta(17) mutations were detectable in 6 of 12 and 4 of 9 maternal plasma specimens, respectively, which were in concordance with the results obtained by routine invasive procedure. The noninvasive prenatal diagnostic methods developed should potentially prove useful for detection of paternally inherited mutation and for providing the exclusion of pregnancies at risk for this common genetic disorder in the region.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Jan 20, 2010
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, 2006
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, May 7, 2015
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, May 7, 2015
Journal of Clinical Pathology, 2016
AimsThe presence of the ζ-globin chain is a good marker of (--SEA) α0-thalassaemia. We evaluated ... more AimsThe presence of the ζ-globin chain is a good marker of (--SEA) α0-thalassaemia. We evaluated an immunochromatographic (IC) strip assay for ζ-globin in screening for (--SEA) α0-thalassaemia in a population with a high prevalence and heterogeneity of haemoglobinopathies.MethodsThe study was carried out on 300 screen positive blood samples of Thai individuals. The IC strip assay for the ζ-globin chain was performed on all samples. The results were interpreted with thalassaemia genotyping using standard haemoglobin and DNA analyses.ResultsSeveral thalassaemia genotypes were noted. Among the 300 subjects investigated, 79 had a positive IC strip assay for ζ-globin and (--SEA) α0-thalassaemia was identified in 40 of them. No (--SEA) α0-thalassaemia was detected in the remaining 39 samples with a positive IC strip test result or in the 221 samples with a negative IC strip test result. Further DNA analysis identified α+-thalassaemia in 25 of the 39 (--SEA) α0-thalassaemia negative sample...
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Jan 14, 2010
Clinical laboratory, 2015
BACKGROUND Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a mutation at codon 91 of α1-globi... more BACKGROUND Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a mutation at codon 91 of α1-globin gene whereas Hb E is a common β-globin chain variant among Southeast Asian population. We report two hitherto undescribed conditions of Hb Grey Lynn found in Thai individuals. METHODS The study was done on two unrelated Thai subjects. Hematological parameters were recorded and Hb analysis was carried out using automated Hb analyzers. Mutations were identified by DNA analysis. Hematological features of the patients were compared with those of various forms of Hb Grey Lynn documented previously. RESULTS Hb and DNA analyses identified a heterozygous Hb Grey Lynn in one patient and a double heterozygous Hb Grey Lynn and Hb E with α(+)-thalassemia in another. Interaction of α(Grey Lynn) with β(E) chains leads to the formation of a new Hb variant, namely the Hb Grey Lynn E (α(GL)2β(E)2), detectable by liquid chromatography (10.3%) but masked by Hb E on capillary electrophoresis. CONCLUSIONS ...
Introduction: Elevated hemoglobin (Hb) A2 is an important diagnostic marker for β-thalassemia car... more Introduction: Elevated hemoglobin (Hb) A2 is an important diagnostic marker for β-thalassemia carriers. However, diagnosis of cases with borderline Hb A2 may be problematic. We described the molecular characteristics found in a large cohort of Thai subjects with borderline Hb A2. Material and methods: Examination was done on 21,657 Thai subjects investigated for thalassemia at Khon Kaen University, Thailand. A total of 202 subjects with borderline Hb A2 (3.5–4.0%) were selectively recruited and hematological parameters were recorded. DNA variants in α-, β-, δ-globin, and Krüppel-like factor 1 (KLF1) genes were examined using PCR. Results: Among 202 subjects, DNA analysis identified carriers of α+-thalassemia (n = 48; 23.8%), β-thalassemia (n = 22; 10.9%) and KLF1 mutations (n = 48; 23.8%). No molecular defect was observed in the remaining 84 subjects (41.5%). Interaction of KLF1 and α-thalassemia was observed in 10 cases. Of the 22 β-thalassemia carriers, five β+-thalassemia mutatio...
The American Journal of Clinical Nutrition
Background: It is customary in Southeast Asia to treat pregnant anemic women with iron supplement... more Background: It is customary in Southeast Asia to treat pregnant anemic women with iron supplements, but anemia in this region may be complicated by thalassemia and hemoglobinopathies, which lead to an ineffective response. Objective: The aim was to determine whether routine iron supplementation during pregnancy in this area, which has a high prevalence of thalassemia and hemoglobinopathies, is an effective control strategy for iron deficiency anemia. Design: A prospective study was conducted. Seventy-six pregnant women, including 43 who were heterozygous for the hemoglobin E (Hb E) gene, 20 who were heterozygous for Hb E and had ␣-thalassemia, and 13 who were homozygous Hb E, as well as 77 pregnant women who had no thalassemia gene, participated in this investigation. All pregnant women received a daily dose of 120 mg elemental Fe for an average of 133.5 d. Hematologic variables and serum ferritin concentrations were measured before supplementation and after supplementation at the gestational age of 28-32 wk. Differences in hematologic variables and serum ferritin were assessed. Results: Significant differences in hemoglobin, mean corpuscular volume, and mean corpuscular hemoglobin responses were found between the nonthalassemia group and the 3 groups with the Hb E gene after adjustment for the following baseline values: age, body mass index, duration of iron supplementation, and ferritin concentration. Significant differences in the improvements in mean corpuscular volume and mean corpuscular hemoglobin values between the 3 groups indicate a poorer response at the cellular level in the pregnant women with the Hb E gene. Further analysis showed a significant difference in the hemoglobin response only for women who were homozygous for Hb E. Conclusion: Iron supplementation during pregnancy is not beneficial for pregnant women who are homozygous for Hb E, but a routine intervention should not cause iron overload, as judged from this short observation period.
Annals of human biology, Jan 19, 2017
Haemoglobin (Hb) E is the most common Hb variant in Asia where its gene frequency approaches 0.3 ... more Haemoglobin (Hb) E is the most common Hb variant in Asia where its gene frequency approaches 0.3 in some areas. We studied genetic background of Hb E genes among Southeast Asian populations. This study examined β-globin gene haplotypes linked to haemoglobin E (Hb E) in diverse groups of Southeast Asian populations. The study was conducted on southern Thai (22 alleles), Cambodian (84 alleles), Laotian (120 alleles), Vietnamese (87 alleles) and Burmese (one allele) subjects. Results were compared with those of previous studies in northeast Thailand, the Yunnan of China, West India and Europe. Ten different haplotypes were observed. The four most common haplotypes were haplotypes 1 (- + - + + + -) and 2 (+ - - - - + -) on chromosomes with framework 2 and haplotypes 6 (- + - + + - +) and 7 (+ - - - - - +) on chromosomes with framework 3 variety. Phylogenetic analysis indicated that haplotype 1 is a relatively recent haplotype found in all populations, whereas haplotype 6 is found predom...
Hematology
Introduction: Thalassemia-related complications are one of the main factors that increase morbidi... more Introduction: Thalassemia-related complications are one of the main factors that increase morbidity and mortality in aging patients with thalassemia. This study was aimed to report the prevalence and clinical risk factors for the complications in thalassemia. Methods: A multi-center prospective cohort study was conducted in patients with thalassemia aged ≥10 years old. Thalassemia-related complications were heart failure, pulmonary hypertension, extramedullary hematopoiesis, endocrine disorders, infections, thrombosis and leg ulcers. The clinical parameters significantly associated with the complications were analyzed by logistic regression methods. Results: The prevalence of thalassemia-related complications was 60.5% in patients with transfusion-dependent thalassemia (TDT) and 43% in patients with non-transfusiondependent thalassemia (NTDT). Splenectomy was statistically associated with complications in both TDT and NTDT patients (adjusted odds ratio (AOR) = 7.4, p-value = 0.0001 and AOR = 2.6, p-value = 0.001). Age ≥50 years old (AOR = 2.9, p-value = 0.04) and female gender (AOR = 0.5, p-value = 0.03) were statistically associated with the complications in patients with NTDT. Conclusion: Nearly half of the patients in this cohort had disease-related complications. Splenectomy and advanced age were important factors for complication involvement. Early screening for the complications may reduce the morbidity and mortality in patients with thalassemia.
American journal of human genetics, Jan 6, 2017
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sic... more A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 (HBG1) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy individuals as an ameliorating...
Journal of community genetics, Jan 11, 2017
Thalassemia is a genetic condition that can result in long and expensive treatments, and severe t... more Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority. Hemoglobin and DNA analyses were carried out to diagnose thalassemia and hemoglobinopathies. Of the total participants, 56.1% (95% CI = 51.1-61.1) carried thalassemia genes. A remarkably high frequency of hemoglobin Constant Spring (Hb CS) of 23.8% (95% CI = 19.7-28.4) was noted. The frequency of α(+)-thalassemia (-3.7 kb deletion) was 26.4% (95% CI = 22.1-31.1), while hem...
The Southeast Asian Journal of Tropical Medicine and Public Health, Feb 1, 1997
Hemoglobin E and alpha-thalassemia are prevalent in Thailand. The chance that an individual heter... more Hemoglobin E and alpha-thalassemia are prevalent in Thailand. The chance that an individual heterozygous for HbE also carries an alpha-thalassemia determinant is high. In this individual, the amount of HbE and other hematological parameters may be differed from that of usual observation. In this study, a total of 132 HbE heterozygotes were screened for alpha-thalassemia 1 gene deletion by the polymerase chain reaction. Out of 132 cases, 71 could be completely analyzed for hematologic parameters. Forty-three of 88 cases with HbE less than 25% as measured using microcolumn chromatography were positive for this gene deletion. In twenty of these 43 alpha-thalassemia 1 positive cases, the average values of Hb, Hct, MCV, MCH, MCHC, RDW and HbE were 10.6 g/ dl, 33.1%, 64.8 fl, 21.0 pg, 32.3 pg/dl, 18.6% and 17.4%, respectively. Eight of 9 alpha-thalassemia 1 negative cases were positive for alpha-thalassemia 2 gene deletion in Southern blot analysis. In this later group, hematological parameters were similar to that of the former. Co-inheritance of the Hb Constant Spring gene has no direct effect on the level of HbE. No alpha-thalassemia 1 gene was detected in the remaining 34 cases whose HbE were above 25%. The average amount of Hb, Hct, MCV, MCH, MCHC, RDW and HbE were 12.4 g/dl, 37.7%, 79.7 fl, 26.2 pg, 32.7 pg/dl, 25.8% and 28.5%, respectively. Therefore, screening for HbE level below 25% may be a convenient way of identifying parents of carrying alpha-thalassemia 1 determinant.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, 2006
Ann Hematol, 2006
We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various for... more We describe hematologic and DNA characterization of hemoglobin (Hb) E homozygote with various forms of α-thalassemia in Thai individuals. Altogether, 131 unrelated adult subjects with Hb EE at routine Hb analysis were studied. Forty-two cases were found to carry α-thalassemia with ten different genotypes. These included 21 cases with α +-thalassemia heterozygote (-α 3.7 /αα), one case with α +-thalassemia heterozygote (-α 4.2 /αα), six cases with Hb Constant Spring heterozygote (α CS α/αα), four cases with homozygous α +thalassemia (-α 3.7 /-α 3.7), one case with homozygous α +-thalassemia (-α 4.2 /-α 4.2), two cases with compound α +-thalassemia/Hb Constant Spring (-α 3.7 /α CS α), one case with compound α +-thalassemia/Hb Paksé (-α 3.7 /α PS α), four cases with α 0-thalassemia heterozygote (-SEA /αα), and, unexpectedly, two cases with compound α 0-thalassemia/α +-thalassemia [(-SEA /-α 3.7) and (-SEA /-α 4.2)]. The hematological expression of these Hb E homozygotes with various forms of αthalassemia was presented comparatively with those of the 89 cases of pure Hb E homozygotes. Overlapping levels of Hb E, Hb F, and other hematological parameters were observed which did not predict clinical severity, indicating a need for α-globin gene analysis for accurate diagnosis and improved genetic counseling.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Dec 4, 2012
Clinica Chimica Acta, Aug 31, 2003
Background: In order to provide a reliable non-invasive method for fetal sex determination in a r... more Background: In order to provide a reliable non-invasive method for fetal sex determination in a routine setting, we evaluated the possibility of identifying the fetal Y chromosome-specific sequence in maternal plasma using conventional PCR analysis. Methods: Fetal gender was determined in 31 pregnant women including one with a dizygotic twin pregnancy between 7 and 32 weeks of gestation using DNA extracted from 200 Al of each maternal plasma. The 198 bp SRY gene-specific sequence on Y chromosome and the 261 bp ATL1 gene-specific sequence on X chromosome were co-amplified in a multiplex nested PCR manner. The result was confirmed by routine analysis of fetal tissue obtained by invasive procedure or examination of newborns after delivery. Results: The 198 bp SRY-specific sequence was detected in 15 plasma samples obtained from pregnant women carrying male fetuses. In the remaining cases bearing female fetuses, only the 261 bp ATL1 gene sequence was detected, producing 100% sensitivity and specificity of fetal sex prediction. The result was completely concordant with the conventional fetal tissue analysis and examination of the newborns after delivery. Conclusions: A conventional nested PCR analysis of maternal plasma could be used for accurate fetal gender detection and enable a reliable prospective non-invasive fetal sex determination which should enhance prenatal diagnostic options especially for sex-linked disorders.
Translational Research, 2007
To establish simple noninvasive prenatal diagnosis of common beta-thalassemia in Southeast Asia, ... more To establish simple noninvasive prenatal diagnosis of common beta-thalassemia in Southeast Asia, we have evaluated the possibility of identifying the 3 most common beta-thalassemia genes [beta(E), beta(17A-T), and beta(41/42(-CTCC))] by analysis of fetal DNA in maternal plasma using combined conventional polymerase chain reaction (PCR) and real-time quantitative PCR. Maternal plasma was obtained from peripheral blood of Thai pregnant women collected during the first and second trimesters of gestation. DNA was prepared from 200 microL plasma using a QIAmp Blood Mini Kit. Identifications of the beta(E), beta(41/42(-CTTT)), and beta(17A-T) in plasma DNA were carried out using semi-nested (for beta(E)) and nested (for beta(41/42) and beta(17)) real-time allele-specific PCR methodologies, and the results were compared with those obtained on fetal tissue analysis with routine invasive procedure. Twenty-six fetal beta(E) genes were correctly identified by maternal plasma DNA analysis of 39 pregnant women investigated. The fetal beta(41/42) and beta(17) mutations were detectable in 6 of 12 and 4 of 9 maternal plasma specimens, respectively, which were in concordance with the results obtained by routine invasive procedure. The noninvasive prenatal diagnostic methods developed should potentially prove useful for detection of paternally inherited mutation and for providing the exclusion of pregnancies at risk for this common genetic disorder in the region.
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Jan 20, 2010
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, 2006
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, May 7, 2015
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, May 7, 2015
Journal of Clinical Pathology, 2016
AimsThe presence of the ζ-globin chain is a good marker of (--SEA) α0-thalassaemia. We evaluated ... more AimsThe presence of the ζ-globin chain is a good marker of (--SEA) α0-thalassaemia. We evaluated an immunochromatographic (IC) strip assay for ζ-globin in screening for (--SEA) α0-thalassaemia in a population with a high prevalence and heterogeneity of haemoglobinopathies.MethodsThe study was carried out on 300 screen positive blood samples of Thai individuals. The IC strip assay for the ζ-globin chain was performed on all samples. The results were interpreted with thalassaemia genotyping using standard haemoglobin and DNA analyses.ResultsSeveral thalassaemia genotypes were noted. Among the 300 subjects investigated, 79 had a positive IC strip assay for ζ-globin and (--SEA) α0-thalassaemia was identified in 40 of them. No (--SEA) α0-thalassaemia was detected in the remaining 39 samples with a positive IC strip test result or in the 221 samples with a negative IC strip test result. Further DNA analysis identified α+-thalassaemia in 25 of the 39 (--SEA) α0-thalassaemia negative sample...
Journal of Medical Technology and Physical Therapy วารสารเทคนิคการแพทย์และกายภาพบำบัด, Jan 14, 2010