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: Analyzing registered drug information and providing policymakers and decision-makers with evidence-based data is essential for future decision-making. Aim: To determine composition and patterns of change in registered medicines in Mongolia. Materials and Methods: In this study, an overview analysis of drug registration data from 2006 to 2025 was carried out using Microsoft Power BI. Result: During this period, a total of 7,528 drugs were registered, of which 77.3% were modern medicines, 15.1% were traditional medicines, 5.6% were herbal medicines, 1.4% were biopreparations, and 0.6% were vaccines. On average, overall drug registration increased annually by 2.2%, while imported drug registration grew by 1.9%. In contrast, domestic drug registration fell by 1.4%. Of all registered drugs, 79.7% were imported. Drugs from 64 countries were registered, with Mongolia contributing the largest share by registering 1,525 drugs, which accounts for 20.3% of the total. Among drugs registered by 33 countries with strict regulatory systems, 42.5% of total registrations and 53.3% of imported drugs originated from these countries. Of all registered medicines, 68.2% were prescription medicines, 28.3% were overthe-counter medicines, 1.2% were hospital-use medicines, 2.2% were narcotics, and 0.3% were psychotropic substances. In terms of routes of administration, 64.2% were oral medicines, 23.7% were injectable, 4.8% were ophthalmic, otic, or nasal preparations, 4.6% were topical medicines, 2% were administered via other routes, and 0.9% were inhaled. According to the ATC classification, the largest share was held by anti-infective medicines at 19.5%, while antiparasitic and insecticidal preparations had the smallest share at 0.76%. As of 4 April 2026, there were 477 antibiotics registered, of which 412 were other than suppositories, ointments, eye drops, and ear drops. According to the WHO AWaRe classification list for 2025, 49.03% (n=202) was “Access” group of antibiotics. Conclusion The findings of this study indicate that imported medicines account for a significant share of registered drugs in Mongolia, underscoring the need to expand domestic pharmaceutical production and strengthen the drug registration system.

BACKGROUND. Hemophilia B is X-linked recessive genetic disorder, caused by missing or defective factor IX that results in bleeding longer after an injury or surgery, easy bruising, and an increased risk of bleeding inside joints or the brain. The disorder affects approximately one in 30 000 males worldwide and 18 cases were registered in Mongolia according to statistics of Hemophillia Federation of Mongolia. The annual cost of episodic treatment of an adult with severe hemophilia estimated at ≈53000 USD owing to high cost of treatment developing countries has been adopted to prevent and to forecast the risk of inhibitor. Materials and Methods: The objective of this research is to determine F9 mutations in patients with Hemophillia B in Mongolian population and to assess correlation between genotype and phenotype of disease. Characterization of mutations was performed by direct sequencing of genomic DNA using a Sanger sequencing method. Briefly, the exon or part of the exon deletion was checked and amplified by polymerase chain reaction (PCR). Results: We identified four point mutations and one deletion. No large exon deletion was found in PCR amplification result. As expected, the most common mutations responsible for the disease were point mutations. In general, this study revealed 5 different mutations in unrelated 7 proband and there is good correlation between the type of mutation (location in the amino acid position and domain in the protein) and their functional outcome, yielding a predictable clinical severity.