Background: Hemophilia is a congenital bleeding disorder caused by a lack of clotting factor in the blood. Hemophilia A, B, and C are caused by congenital deficiencies of clotting factors VIII, IX, and IX which are involved in thrombin generation of intrinsic coagulation pathway. Hemophilia A and B is a recessive X-linked congenital bleeding disorder but hemophilia C is typically inherited in an autosomal recessive, these are rare inherited coagulation disorders. This study was conducted based on the lack of database on the epidemiology, clinical type and severity in hemophilia in Mongolia. Aim: The aim of this study was to investigate the relationship between clotting factor levels and bleeding severity of hemophilia. Materials and Methods: A cross sectional study included a total of 30 patients with hemophilia who were registered from May to October 2025 at the Comprehensive Hemophilia Center, MNUMS. The study was approved by the Research Ethics Committee of MNUMS. Result: In this study 30 patients with hemophilia mean age was 18.4±15.7 years, and 96.7% were male. When categorized by age group, 13.4% (n=4) were under 4 years, 40% (n=12) were 5–13 years, 10% (n=3) were 14–18 years, 33.3% (n=10) were 19–44 years, and 3.3% (n=1) were over 45 years. Of the total cases, 83.3% (n=25) had Hemophilia A and 16.7% (n=5) had Hemophilia B. Of the total case, 80% of cases were classified as severe and 20% as moderate hemophilia. Additionally, 40% of cases had joint complications. Conclusion Joint bleeding was observed in 41.6% of patients with severe hemophilia and in 33.3% of those with moderate hemophilia. Target joint damage was found in 40% of the study population because 86.6% of patients were not able to receive prophylactic factor replacement therapy. Joint damage, joint deformities, reduced range of motion, and deterioration in quality of life were all adverse outcomes related to the early onset of joint bleeding.

Background: Elite athletes regularly participate in national and international sporting competitions while simultaneously engaging in high-intensity and intensified training programs. Therefore, assessing changes in blood biochemical parameters is of considerable importance for evaluating athletes’ physiological adaptation to training loads. In particular, determining the activity of lactate dehydrogenase enzyme in athletes’ blood plasma provides a scientific basis for improving individual performance, evaluating sports performance, and enhancing the effectiveness of future training programs. Aim: To examine plasma lactate dehydrogenase enzyme activity in athletes of the Mongolian National Team. Materials and Methods: A total of 51 athletes, including 26 men and 25 women from 6 types of sports of the Mongolian National Team included in the study. Anaerobic capacity was assessed using a Monark 894E Ergomedic Peak Bike, designed to apply exercise load. Blood serum lactate level and lactate dehydrogenase enzyme activity were determined using a Biobase BK-280 fully automated biochemical analyzer. Heart rate, peripheral blood oxygen levels, and oxygen saturation were measured using a pulse oximeter. Result: The average age of the participating was 24.04±4.15 years, with average height of 168±8.78 cm and average weight of 71.01±7.69 kg. The average BMI was 24.82±4.12 kg/m². Pre-exercise lactate dehydrogenase enzyme activity averaged 177.1±28.96 U/L, while post-exercise lactate dehydrogenase activity averaged 223.5±51.56 U/L. The average heart rate before exercise was 66.04±8.9 bpm, while post-exercise heart rate was 123.6±16.06 bpm. The average VO2 max was 95.18±2.48. Conclusion The activity of the enzyme lactate dehydrogenase before and after exercise showed significant differences in the age groups 20-29 (p<0.01). When comparing lactate dehydrogenase enzyme activity before and after exercise by sport, statistically significant increases were observed in freestyle wrestling and judo athletes (p<0.01).

Background: Identifying pathogenic variants in the F8, F9 gene in patients with hemophilia A (HA) and Hemophilia B (HB) is crucial for improving genetic counseling, understanding genotype–phenotype correlations, assessing inhibitor risk, and establishing family-specific mutation profiles. Aim: To detect mutations in the F8 and F9 genes among people with hemophilia A and B diagnosed in Mongolia. Materials and Methods: Long-distance PCR were used to detect intron-22 and intron-1 inversions. Sanger sequencing identified nucleotide substitutions, deletion, and insertion in F8 and F9 gene. Result: Thirty-two male patients with HA (30 severe, one moderate, and one mild) from 27 unrelated families, eight patients with Hemophilia B were analyzed. Among 25 families with severe HA, pathogenic variants were found in 24 families (95.6%). Large structural rearrangements were detected in 22 patients from 19 families, including intron-22 inversion in 16 cases of 14 families, intron-1 inversion in four cases from three families, and two large deletions found in two unrelated families. In one severe case, no pathogenic variant was identified in the entire F8 gene. Small scale changes were identified in the remaining patients, including missense in three families and two frameshift variants, all associated with severe phenotype. We found novel c.2240del variant and classified as pathogenic. A known polymorphism (c.3864A>C) was identified in one patient with moderate HA, while a novel intronic deletion (c.1010-106delA) was detected in a patient with mild disease. Two families had a history of HB. A total of five different variants (c.223C>T; c.344A>G; c.464G>C; c.187_188del; and c.1314_1314delA) were identified in six patients with severe HB. Of these, two (c.187_188del and c.1314_1314delA) were novel. No variant in the entire F9 was found in two patients with mild HB. Nonsense c.223C>T (p.Arg75*) mutation was detected in two unrelated patients. Conclusion Intron-22 (56%) and intron-1 (12%) inversions were detected in families with severe HA. A novel c.2240del variant was also identified in association with a severe phenotype. The novel variants c.187_188del and c.1314_1314delA of F9 can cause severe Hemophilia B.

Background: Hemophilia A (HA) and hemophilia B (HB) are monogenic bleeding disorders caused by pathogenic variants in the F8 and F9 genes, respectively, which are located on the X chromosome and result in deficiencies of coagulation factor VIII (FVIII) and factor IX (FIX). The diseases predominantly affect males, while females are usually asymptomatic heterozygous carriers. Identification of female carriers among relatives of affected males is important for preventing bleeding complications associated with surgery and childbirth. Aim: The main aim of this study was to detect carrier and non-carrier women and compare some phenotypes. Materials and Methods: The study included 50 female relatives of 32 male patients diagnosed with hemophilia A and 13 female relatives of 8 male patients diagnosed with hemophilia B, giving a total of 63 female relatives. Molecular genetic testing was performed to identify the pathogenic variants previously detected in the probands and to determine the carrier status of female relatives. Among them, 33 confirmed carriers and 18 non-carriers completed a 28-item questionnaire comprising three sections to assess bleeding-related symptoms. The questionnaire evaluated easy bruising, duration of menstruation, postpartum bleeding, and bleeding following injuries, surgical procedures, and dental procedures. Questionnaire findings were compared between molecularly confirmed carriers and non-carriers. Continuous variables were compared using the Mann–Whitney U test, while categorical variables were analyzed using Fisher’s exact test in R software. In female relatives of patients with hemophilia A, plasma FVIII activity was also measured. Result: Molecular genetic testing was performed in 52 female relatives. Eleven women were excluded from carrier-status analysis because no pathogenic variant was identified in the F8 or F9 gene of their respective probands. Among 43 female relatives of patients with hemophilia A who underwent carrier testing, 26 (60.4%) were identified as carriers and 17 (39.5%) as non-carriers. Among eight male patients with hemophilia B, pathogenic F9 variants were identified in six; among their seven female relatives, six were confirmed carriers and one was a non-carrier. The mean FVIII activity among heterozygous HA carriers was 58.5±20.6 IU/dL (n=17), which was significantly lower than that of non-carriers (101±28.8 IU/dL; p<0.001). Of the nine bleeding-related symptoms assessed, only easy bruising of the skin was significantly more common among carriers (OR=6.8; p=0.0069). Although prolonged menstrual bleeding and bleeding after childbirth, surgery, or dental procedures were reported among some carriers, no statistically significant differences were observed between carriers and non-carriers. Conclusion Among female relatives of males diagnosed with Hemophilia A or B in Mongolia, 32 (64%) of 50 women were identified as carriers and 18 (36%) as non-carriers. Plasma FVIII activity was significantly lower in HA carriers than in non-carriers (58.5±20.6 IU/dL vs. 101±28.8 IU/dL; p<0.001). Easy bruising was significantly more frequent among carriers (OR=6.8; p=0.0069). These findings support the importance of molecular genetic testing for identifying female carriers and recognizing women who may be at increased risk of bleeding, particularly in the context of surgery and childbirth.

Background: Liver transplantation has become an effective treatment option worldwide for a wide range of malignant and non-malignant liver diseases. In Mongolia, the high prevalence of single and co-infections with viral hepatitis is a major contributing factor to the development of liver cirrhosis and primary liver cancer. However, data on the indications, clinical characteristics, and outcomes of liver transplantation in the Mongolian population remain limited. Aim: To evaluate the indications and clinical characteristics of patients undergoing liver transplantation and to determine their survival outcomes. Materials and Methods: This single-center, retrospective cohort study included 238 patients who underwent liver transplantation at the National Cancer Center of Mongolia between 2018 and feb 2026. Patients were categorized into two groups according to the indication for transplantation: malignant and non-malignant liver diseases. Demographic and clinical characteristics were compared between the groups. Overall survival was estimated using the Kaplan–Meier method, and differences in survival were assessed using the log-rank test. A p-value <0.05 was considered statistically significant. Result: The mean age of the liver transplant recipients was 49.0 ± 8.4 years. Relatively older male patients were more likely to undergo liver transplantation for malignant liver diseases, whereas younger female patients predominated among those transplanted for non-malignant conditions (p=0.0001). No statistically significant difference in body mass index was observed between the groups (p>0.05). MELD and Child–Pugh (CPT) scores, reflecting the severity and prognosis of liver disease, differed significantly between the two groups. However, no statistically significant difference in survival was observed between the groups at 1-, 3-, or 5- years after liver transplantation (p=0.974). Conclusion Although age, sex, and liver disease severity as assessed by MELD and Child–Pugh scores differed significantly between patients undergoing liver transplantation for malignant and non-malignant indications, no statistically significant difference was observed in survival at 1-, 3-, or 5- years following liver transplantation.

Introduction: Chronic lymphocytic leukemia (CLL) is a hematologic malignancy characterized by the clonal proliferation and accumulation of mature monoclonal B lymphocytes in the peripheral blood. CLL is relatively common in Europe and North America, with an incidence of approximately 4–6 cases per 100,000 population, whereas it is rare in South Asia, with an incidence of approximately 0.11 cases per 100,000 population. During the course of the disease, neoplastic lymphocytes may infiltrate the bone marrow, lymph nodes, liver, spleen, and, less commonly, other organs and tissues. CLL presenting with marked splenomegaly in the absence of lymphadenopathy is uncommon. Therefore, in patients with unexplained splenomegaly, the differential diagnosis should include CLL and other lymphoproliferative disorders. Case Presentation: We report a case of CLL diagnosed on the basis of clinical findings, laboratory investigations, and additional diagnostic evaluation in a patient who presented to a hematology outpatient clinic with splenomegaly. An 81-year-old man presented with a macular rash involving the thighs, lower legs, chest, and both upper extremities, accompanied by dizziness, unsteadiness, nausea, fatigue, and generalized weakness. Physical examination revealed massive splenomegaly with a smooth surface and blunt edge, palpable approximately 25 cm below the left costal margin. Laboratory investigations demonstrated hyperleukocytosis with lymphocytosis, moderate normocytic normochromic anemia, and severe thrombocytopenia. Contrast-enhanced abdominal computed tomography revealed massive splenomegaly, with the spleen measuring 27.9×20.0×7.9 cm. The patient was treated with cyclophosphamide at a dose of 250 mg/m (400 mg administered) in combination with glucocorticoid therapy. Following treatment, leukocytosis, lymphocytosis, and monocytosis improved, and the spleen decreased substantially in size, becoming palpable approximately 4 cm below the umbilicus on physical examination. Conclusion Hematologic malignancies should be considered in the differential diagnosis of patients presenting with unexplained splenomegaly. In this case, a diagnosis of chronic lymphocytic leukemia was established based on bone marrow examination and the overall clinical and laboratory findings. Following treatment with cyclophosphamide and glucocorticoids, peripheral blood abnormalities improved and splenic enlargement decreased substantially, suggesting a favorable therapeutic response.

Background: Sarcopenia is a multifactorial geriatric syndrome characterized by age-related loss of muscle mass, muscle strength, and physical performance. In recent years, neurotrophic and neuromuscular biomarkers have been investigated as potential diagnostic indicators of sarcopenia; however, evidence regarding their sex-specific differences remains limited. Aim: To evaluate the sex-specific associations of serum BDNF, GDNF, and CAF22 levels with sarcopenia and muscle-related parameters among older adults. Materials and Methods: This analytical cross-sectional study included adults aged 60 years and older. Sarcopenia was defined according to the Asian Working Group for Sarcopenia (AWGS 2019) criteria. Serum BDNF, GDNF, and CAF22 levels were measured using ELISA. Group differences were analyzed using independent t-tests, correlations were assessed using Pearson correlation analysis, and diagnostic performance for sarcopenia was evaluated using receiver operating characteristic (ROC) analysis. Multivariable logistic regression analysis was also performed. Results: No statistically significant differences were observed in serum BDNF, GDNF, and CAF22 levels between sarcopenic and non-sarcopenic participants in either the male or female groups (all p>0.05). ROC analysis demonstrated AUC values ranging from 0.540 to 0.542 in males and from 0.508 to 0.530 in females for BDNF, GDNF, and CAF22. Multivariable logistic regression analysis revealed that age (OR=1.12, 95% CI: 1.04–1.21, p=0.003) and lower fat-free mass index (OR=0.78, 95% CI: 0.66–0.91, p=0.001) were significantly associated with sarcopenia, whereas BDNF, GDNF, and CAF22 showed no independent association with sarcopenia. Conclusions 1. No statistically significant sex-specific differences were observed in serum BDNF, GDNF, and CAF22 levels between sarcopenic and non-sarcopenic older adults (all p>0.05). 2. CAF22 levels were weakly negatively correlated with muscle mass and fat-free mass index in males (p<0.05), whereas BDNF levels showed weak positive correlations with handgrip strength and fat-free mass index in females (p<0.05). CAF22 levels also demonstrated a weak positive correlation with age (p<0.05). 3. ROC and multivariable logistic regression analyses indicated limited diagnostic utility of BDNF, GDNF, and CAF22 for sarcopenia (AUC=0.508–0.542), and none of these biomarkers showed an independent association with sarcopenia (all p>0.05). In contrast, older age (OR=1.12, p=0.003) and lower fat-free mass index (OR=0.78, p=0.001) were significantly associated with sarcopenia.

Background: Congenital hypothyroidism (CH) is a condition characterized by a decrease in the amount of thyroid hormones in the blood or a complete lack of thyroid function due to a decrease in the amount of thyroid hormones in the blood or a complete lack of thyroid hormones. CH occurs in 1 per 3000-4000 live births worldwide. The clinical symptoms of CH are initially subtle, usually appearing within a month of birth, and if diagnosis and treatment are delayed, it can lead to physical and mental developmental delays and eventual disability. The cause of the disease is not fully known, but it is believed to be influenced by maternal iodine deficiency and mutations in genes responsible for neonatal thyroid development (TSHR, PAX8, NKX2-1, and FOXE1 transcription factors). More than 40 types of TSHR gene mutations are causing CH. Studies conducted in Japan, China, and Taiwan have shown that the p.R450H mutation in the TSHR gene is a risk factor for CH. In Mongolia, a newborn screening analysis of congenital hypothyroidism revealed a rate of 1 case per 2091 live births in 2021, which is higher than the global average. However, there is a lack of molecular genetic research on this condition in the country. Aim: To identify of p.R450H mutation in the TSHR gene among neonates diagnosed with congenital hypothyroidism through neonatal screening Materials and Methods: The study used dried blood spots from 17 children diagnosed with congenital hypothyroidism at Mongolian-Japanese University hospital and Central Hospital of MNUMS from 2012 to 2024. To identify an optimal method for DNA extraction from dried blood samples, we evaluated five different protocols. DNA was extracted using the method that yielded the highest quantity and purity, and the TSHR gene was subsequently amplified by PCR. Detecting the p.R450H mutation of the TSHR gene, the PCR product was cut with Faul restriction enzyme and the results were evaluated by gel electrophoresis. Results: In our study, DNA isolation from dried blood using methods 1 and 2 had high yield and purity, so we isolated DNA from samples of 17 children diagnosed with congenital primary hypothyroidism and amplified the TSHR gene by PCR. When the PCR products were run through gel electrophoresis, 14 samples were amplified by PCR. After that, the genotype of the p.R450H mutation of the TSHR gene was determined by fragment length polymorphism analysis, and 11 (78.6%) samples were found to have the G/G genotype, 2 (14.3%) samples were found to have the G/A genotype, and 1 (7.1%) sample was found to have the A/A genotype, respectively. Conclusion Among children with congenital hypothyroidism diagnosed through newborn screening test between 2012 and 2024, the p.R450H homozygous and heterozygous mutation in the TSHR gene was 21.4%.

Background: A child’s physical growth is fundamentally dependent on hormonal regulation, metabolism, and oxygen supply, within which bone mineralization specifically calcium (Ca²⁺) levels acts as a primary factor determining bone mineral density (BMD), muscle function, and hormonal activity. In cardiovascular disease (CVD), multiple physiological processes are disrupted at various levels, including decreased blood circulation and oxygen supply, increased energy expenditure, and reduced absorption of nutrients and micronutrients. In this context, research linking calcium levels in 6–7-year-old children with electrocardiographic (ECG) changes to physical growth has been scarce, which provided the rationale for conducting this study. Aim: To investigate the association between calcium levels and physical growth among 6–7-year-old children with electrocardiographic (ECG) abnormalities detected through early screening. Materials and Methods: This study was conducted using a case-control design. The case group included 143 children aged 6–7 with ECG changes, and the control group included 153 children without ECG changes, totaling 296 voluntary participants. Serum total calcium and albumin levels in both groups were measured using a fully automated biochemical analyzer. Statistical analysis was performed using SPSSv27, applying independent samples t-tests, ANOVA, and correlation analysis to compare means between the two groups. Results: The control group’s serum total calcium was 2.65±0.15 mmol/L, corrected calcium was 2.58±0.13 mmol/L, and the case group’s serum total calcium was 2.64±0.18 mmol/L, corrected calcium was 2.59±0.17 mmol/L, with no statistically significant difference observed between the study groups (p>0.05). When comparing total calcium in case-group children with normal height (2.66±0.20) versus those with stunted growth (2.61±0.13), a statistically significant difference was found (p<0.05). Correlation analysis between total and corrected calcium levels and physical growth indicators across study groups showed no statistically significant association. When height measurements were divided into four quartiles (Q1–Q4) and compared against total and corrected serum calcium, no statistically significant differences were found between the groups. Conclusions Comparison of physical growth and development Z-scores between children with and without ECG abnormalities revealed no statistically significant differences. However, total calcium levels tended to be lower among children with normal growth compared with those with growth retardation in the case group (p < 0.05). No statistically significant differences were observed in serum total or albumin-corrected calcium levels between the study groups (p > 0.05). When height measurements in the study groups were categorized into quartiles, no statistically significant differences in total or albumin-corrected calcium levels were observed between the groups. This suggests that calcium levels alone may not be a decisive determinant of physical growth in children of the same age.

Background: Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by abnormal proliferation of megakaryocytes in the bone marrow, resulting in persistent thrombocytosis in the peripheral blood and clinical manifestations including thrombotic and hemorrhagic complications. Approximately 90% of patients with ET harbor driver mutations in JAK2, CALR, or MPL, with JAK2V617F being the most frequently detected mutation. The JAK2V617F mutation induces constitutive activation of the JAK–STAT signaling pathway, leading to abnormal megakaryocytic proliferation and increased platelet production. Consequently, patients are predisposed to thrombotic complications; however, qualitative platelet dysfunction may also contribute to an increased risk of bleeding. Among large-vessel thrombotic complications, venous thromboembolism is relatively common, whereas pulmonary artery thromboembolism is an uncommon complication. Moreover, thrombotic risk is generally lower in patients with JAK2-negative ET. Case presentation: In this report, we present a rare case of essential thrombocythemia presenting with respiratory failure secondary to pulmonary artery thromboembolism. Conclusion This case demonstrates that essential thrombocythemia may initially manifest with life-threatening thrombotic complications, including pulmonary thromboembolism, even in the absence of the JAK2 V617F mutation. Accordingly, unexplained thrombocytosis warrants evaluation for an underlying myeloproliferative neoplasm, while early assessment of thrombotic risk is essential for guiding appropriate clinical management and reducing the risk of adverse outcomes.