Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.

Background: Congenital neutropenia is a rare disease. Recurrent infections since young age are the presentation. The most common mutation causing severe congenital neutropenia (SCN) and cyclic neutropenia (CyN) is the ELANE gene.

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature.

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency anemia. Her hemoglobin level increased from 6.

Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia.

Objective: The study aimed to report a 3-decade successive establishment of care for women/girls from families with haemophilia.

Methods: A retrospective analysis was conducted on 462 women/girls from 243 families from 1987 to 2021.

Results: Combining phenotypic analysis of coagulation factor and genotypic analysis of either linkage analysis or mutation detection confirmed the status of all obligate haemophilia carriers (A118, B19).

Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.

Next-generation sequencing has shed light on the diagnosis of previously unsolved cases of inherited haemolytic anaemia (IHA). We employed whole-exome sequencing to explore the molecular diagnostic spectrum of 21 unrelated Thai paediatric patients with non-thalassemic IHA, presenting hydrops fetalis and/or becoming transfusion-dependent for 1 year or more or throughout their lifespan. Anaemia was detected prenatally, within the first month and the fifth year of life in three, 12 and six patients respectively.

Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?

Background: Adequate replacement for patients with hemophilia is costly, especially in countries with limited resources.

Objective: Factor VIII gene mutations among Thai patients with hemophilia A were analyzed for the most common mutation. The cost-effectiveness of finding one female without family history of hemophilia possessing the most common factor VIII mutation was compared with the cost of treating one patient with hemophilia.

PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population.

Protein C (PC) deficiency, caused by mutations of the gene, is a common inherited risk factor of thromboembolism (TE) among Thai people. This study aimed to investigate the association of 3 single nucleotide polymorphisms (SNPs; -1654 C/T, -1641 A/G, -1461A/T) at the promoter region with PC activity and the risk of developing TE. A total of 216 patient s with TE, diagnosed at aged 0 to 20 years, and 102 healthy adults were enrolled.

The Effect of Blood Transfusion on Growth of Patients with Hb E/β-Thalassemia.

A retrospective evaluation of growth in 112 patients (68 males, 44 females) with Hb E (: c.79G>A)/β-thalassemia (β-thal), classified as 88 transfusion-dependent thalassemia (TDT) and 24 non transfusion-dependent thalassemia (NTDT), is reported. Patients with TDT have received regular transfusions of red blood cells (RBCs) 15 mL/kg every 4 weeks to maintain pre transfusion hemoglobin (Hb) levels of at least 9.

Coagulant activity of recombinant human factor VII produced by lentiviral human F7 gene transfer in immortalized hepatocyte-like cell line.

Human mesenchymal stem cells (hMSCs) have the potential to differentiate into hepatocyte-like cells, indicating that these cells may be the new target cell of interest to produce biopharmaceuticals. Our group recently established a hMSC-derived immortalized hepatocyte-like cell line (imHC) that demonstrates several liver-specific phenotypes. However, the ability of imHC to produce coagulation factors has not been characterized.

Generation of a human induced pluripotent stem cell line (MUi010-A) from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9 gene.

Mutations in MYH9 gene is one of the major causes of inherited thrombocytopenia resulted from nonfunctional myosin-9 protein. We have generated a human induced pluripotent stem cell line MUi010-A from skin fibroblasts of a patient who had a point mutation c.2104C>T (p.

Abnormal red blood cell indices increase the risk of arterial ischemic stroke in children.

A high red cell distribution width (RDW) and low hemoglobin level increase the risk of arterial ischemic stroke (AIS), mostly in adults. The mechanisms related to AIS remain unknown. A total of 233 subjects (90 patients and 143 healthy controls [HC]) were enrolled.

R147W in PROC Gene Is a Risk Factor of Thromboembolism in Thai Children.

The p.R147W mutation, the c.C6152T in exon 7, causing a change in amino acid from arginine to tryptophan of the PROC gene has been reported as a common mutation in Taiwanese populations with venous thromboembolism (VTE).

Incidences, risk factors and outcomes of neonatal thromboembolism.

Background: The incidences of thromboembolism (TE) in neonates were reported to be around 0.51 per 10,000 live births per year for overall TE and 24 per 10,000 NICU admissions per year. As the incidences of TE in children and adults are lower in Asian populations, the incidences, risk factors, and outcomes of neonatal TE may be different to those reports from other countries.

Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism.

The prevalence of protein S (PS) deficiency in Asian patients with venous thromboembolism is around 8-30%, higher than that in Caucasian populations. The present study reports the genotypes (including one novel mutation) and phenotypes of children with PS deficiency at a tertiary care institute. A total of six patients were included, three with arterial ischemic stroke, two with cerebral venous sinus thrombosis, and one with deep vein thrombosis.

Normal hemostatic parameters in children and young adults with α-thalassemia diseases.

Thalassemia intermedia (TI), a non-transfusion dependent thalassemia, is divided into α-thalassemia, such as HbH disease, and β-thalassemia diseases, such as HbE/β thromboembolism (TE) in TI has been mostly reported in β-thalassemia diseases with incidence rates of 3.9-29%. The present study enrolled 60 patients with α-thalassemia intermedia.

Combined chelation therapy with daily oral deferiprone and twice-weekly subcutaneous infusion of desferrioxamine in children with β-thalassemia: 3-year experience.

Objective: To study the efficacy of combined treatment with oral and subcutaneous iron chelators.

Material And Methods: 50-100 mg/kg/day of oral deferiprone (DFP) combined with 40 mg/kg/dose s.c.

Global fibrinolytic activity, PAI-1 level, and 4G/5G polymorphism in Thai children with arterial ischemic stroke.

Background: Prolonged euglobulin clot lysis time (ECLT) and increased level of plasminogen activator inhibitor-1 (PAI-1) were reported to be risk factors of arterial ischemic stroke (AIS) by some studies; however, these findings were not supported by other studies. The objective of this study was to determine the association of ECLT, PAI-1 level, and polymorphisms of 4G and 5G of PAI-1 gene to the development of AIS in Thai children.

Methods: This study included patients aged 1-18 years old.

High Factor VIII and Von Willebrand Factor Levels Are Not Risk Factors of Cryptogenic Arterial Ischemic Stroke in Thai Children.

High factor VIII levels and a risk factor of arterial ischemic stroke is controversial. Levels of factor VIII depend on ethnicity, age, and sex. This report included 24 Thai children with cryptogenic arterial ischemic stroke and 41 controls, with a mean (standard deviation) age of 11.

New mathematical formula for differentiating thalassemia trait and iron deficiency anemia in thalassemia prevalent area: a study in healthy school-age children.

Iron deficiency anemia (IDA) and thalassemias are common diseases especially in the Mediterranean, Middle East and Asian regions. Both conditions show the same clinical findings of hypochromic and microcytic red blood cells. Although previous studies have devised mathematical formulae to differentiate between these two conditions, the prevalence of alpha- and beta-thalassemias among the affected populations may undermine the accuracy of these formulae.

Tumour necrosis factor gene polymorphism in dengue infection: association with risk of bleeding.

Background: A single nucleotide polymorphism located at the promoter -308A of tumour necrosis factor-alpha (TNF-α) gene may affect transcription and increase cytokine production, leading to the severe manifestation of dengue virus infection.

Aim: To study the association of the TNF-α -308A allele and the severity of patients with dengue infection.

Methods: 112 patients suspected of having dengue infection and 106 normal controls were enrolled in the study.