Fetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program.

Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.

Methods: A total of 371 fetal blood specimens were recruited. Complete blood count and hemoglobin (Hb) analysis using capillary electrophoresis were performed.

Prenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.

Objectives: To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.

Methods: Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.

Results: Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease.

A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation.

Background And Aims: To update the molecular characteristics of α-thalassemia in northeast Thailand, the molecular basis and genetic interactions of Hb H disease were examined in a large cohort of patients.

Materials And Methods: A study was done on 1,170 subjects with Hb H disease and various genetic interactions encountered during 2009-2023. Hb and DNA analyses were carried out.

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation.

Background And Aims: High hemoglobin F determinants can be classified into hereditary persistence of fetal hemoglobin (HPFH) and δβ-thalassemia with different phenotype. We report the molecular basis and hematological features in a large cohort of deletional high Hb F determinants in Thailand.

Materials And Methods: Subjects (n = 28,177) encountered during 2015-2022 were reviewed, and those with phenotypically suspected of having high Hb F determinants were selected.

Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Aims: Krüppel-like factor 1 (KLF1) is an erythroid-specific transcription factor playing an important role in erythropoiesis and haemoglobin (Hb) switching. Biallelic KLF1 mutations can cause haemolytic anaemia with thalassaemia-like syndromes but are rarely reported. We explore the KLF1 mutations in Thai subjects with unexplainable haemolytic anaemia.

Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.

High Hb F determinants are genetic defects associated with increased expression of hemoglobin F in adult life, classified as deletional and non-deletional forms. We report the first description of non-deletional hereditary persistence of fetal hemoglobin (HFPH) in Thailand. Study was done on 388 subjects suspected of non-deletional HPFH with elevated Hb F expression.

Molecular basis of a high Hb A/Hb F-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with -globin gene triplication.

Background: -thalassemia deletion removing 5´-globin promoter usually presents phenotype with high hemoglobin (Hb) A and Hb F levels. We report the molecular characteristics and phenotype-genotype correlation in a large cohort of the -thalassemia with 3.4 kb deletion.

Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.

Objective: To determine the frequency and etiology of unnecessary prenatal diagnosis for hemoglobinopathies during 12 years of services at a single university center in Thailand.

Methods: We conducted a retrospective cohort analysis of prenatal diagnosis during 2009-2021. A total of 4,932 couples at risk and 4,946 fetal specimens, including fetal blood (5.

Hemoglobin EE disease in young Laotian children: Hematologic features and the contributions of genetic variations to Hb F expression.

Background: The wide variation in hemoglobin (Hb) F levels has been observed in patients with Hb EE disease. This study aimed to describe hematologic features and determine the effect of genetic variants on Hb F expression in young children with Hb EE disease.

Methods: Hematologic features and Hb profiles of Laotian children aged 6-23 months, who originally enrolled in the Lao-Zinc study, were retrospectively reviewed.

Anemia, iron deficiency, and thalassemia among the Thai population inhabiting at the Thailand-Lao PDR-Cambodia triangle.

Anemia is a major public health problem in many areas of Southeast Asia. Ascertaining anemia and defining its underlying causes is essential for providing appropriate care, management, and establishment of a control program. Limited studies on these have been carried out on people living at the borders of Thailand, Lao PDR, and Cambodia.

Phosphatidylserine-exposed red blood cells and ineffective erythropoiesis biomarkers in patients with thalassemia.

Objective: The degree of ineffective erythropoiesis is known to be associated with clinical severity among individuals with thalassemia. The association of ineffective erythropoiesis biomarker levels with different thalassemia genotypes, however, remains limited. The aim of this study was to explore the level of phosphatidylserine-exposed red blood cells (PS-exposed RBCs) and ineffective erythropoiesis biomarkers (growth-differentiation factor-15 and soluble transferrin receptors) in patients with different genotypes.

α-thalassemia in affected fetuses with hemoglobin E-β-thalassemia disease in a high-risk population in Thailand.

Objectives: A co-inheritance of α-thalassemia can ameliorate the clinical severity of the hemoglobin (Hb) E-β-thalassemia disease. This information should be provided at prenatal diagnosis. Identification of α-thalassemia in an affected fetus is therefore valuable.

Diagnostic value of fetal hemoglobin Bart's for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy.

Background: To evaluate whether the quantification of fetal hemoglobin (Hb) Bart's is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglobinopathy.

Methods: A total of 332 fetal blood specimens collected by cordocentesis were analyzed using capillary electrophoresis and the amount of Hb Bart's was recorded. The result was evaluated against thalassemia genotypes determined based on Hb and DNA analyses.

Generation of a single-tube quality control material for hemoglobin and DNA analyses of hemoglobinopathies.

Introduction: Hemoglobinopathies are major public health problems worldwide. Accurate laboratory diagnosis of the carrier is essential, which includes initial screening, Hb analysis, and DNA analysis. For the first time, we have developed a single-tube quality control (QC) sample for these laboratory tests.

Genetic and non-genetic factors affecting hemoglobin A expression in a large cohort of Thai individuals: implication for population screening for thalassemia.

Objective: Increased hemoglobin (Hb) A level is an important diagnostic marker for β-thalassemia carrier screening. The level of Hb A is also useful for differentiating several thalassemia syndromes. We have examined data bases for reduced Hb A expression in a large cohort of Thai subjects.

Results from 8 years of the proficiency testing program for diagnosis of hemoglobinopathies under the prevention and control program of thalassemia in Thailand.

Introduction: Hemoglobin (Hb) analysis is a key testing for diagnosis of hemoglobinopathies. Accurate analysis, interpretation of results, and genetic risk assessment are important. We report on 8 years of the proficiency testing (PT) program for hemoglobinopathies in Thailand.

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

The δ-globin gene defects are clinically silent but interaction with β-thalassemia can lead to a misdiagnosis of β-thalassemia carrier. We report an extensive molecular characterization of δ-hemoglobinopathies in Thailand. Study was done on 32,108 subjects, encountered at the thalassemia screening.

β-Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program.

Introduction: A high frequency of β-thalassemia in Lao People's Democratic Republic necessitates the importance of complete molecular data before a prevention and control program could be established. Limited data are available for Lao PDR. We have now reported an extended information on the molecular basis of β-hemoglobinopathies in this population.

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses.

Objectives: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC) membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In an area where both diseases are prevalent, the interaction between them resulting in variable hematologic parameters can be encountered. However, little is known about the genetic interaction of SAO and thalassemia.

Thalassemia and erythroid transcription factor mutations associated with borderline hemoglobin A in the Thai population.

Introduction: Elevated hemoglobin (Hb) A is an important diagnostic marker for β-thalassemia carriers. However, diagnosis of cases with borderline Hb A may be problematic. We described the molecular characteristics found in a large cohort of Thai subjects with borderline Hb A.

A New Indicator Derived From Reticulocyte Hemoglobin Content for Screening Iron Deficiency in an Area Prevalent for Thalassemia.

Objective: To establish a new indicator derived from reticulocyte hemoglobin (Ret-He) content and red blood cell (RBC) indices for screening for iron deficiency anemia (IDA) in an area in whch thalassemia is prevalent.

Methods: Blood specimens from 304 women aged between 18 and 30 years residing in northeast Thailand were collected and measured for RBC and reticulocyte parameters. Iron deficiency was diagnosed when a participant had a serum ferritin level of less than 15 ng per mL.

Factors associated with anaemia and iron deficiency among women of reproductive age in Northeast Thailand: a cross-sectional study.

Background: Anaemia and iron deficiency (ID) affect women of reproductive age globally and considered to be a major public health problem in developing countries. This study determines the prevalence of anaemia and ID among women of reproductive age in urban northeast Thailand and examined the relative contribution of various risk factors to anaemia and ID in this population.

Methods: Three hundred ninety-nine non-pregnant women, aged 18-45 years, from three universities in northeast Thailand participated in this cross-sectional study.