1.Comparison of phenotypic characteristics in carriers and non-carrier women of Hemophilia A and Hemophilia B
Purevdorj M ; Batzorig B ; Munkhtsetseg B ; Otgonsuren D ; Bolor A ; Narankhuu R ; Nurzeddulam D ; Saruul T ; Sodnomtsogt L ; Erkhembulgan P ; Purevdorj I
Mongolian Journal of Health Sciences 2026;96(6):54-59
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.
2.Structure and properties of natural zeolites for drug delivery applications
Saruul I ; Altantogos M ; ; Sarangerel D
Mongolian Journal of Health Sciences 2026;92(2):186-191
Background:
Natural zeolites-especially clinoptilolite-are promising platforms for drug delivery due to their microporous framework, high cation-exchange capacity, large surface area, adsorption potential, and favorable biocompatibility. These intrinsic properties enable protection of payloads from chemical and enzymatic degradation, modulation of release profiles, and reduced systemic toxicity. As pharmaceutical technology advances, zeolite-based carriers offer solutions to challenges such as poor bioavailability, off-target effects, and environmental concerns from drug residues. Clinoptilolite, the most abundant natural zeolite, has one-dimensional and two-dimensional channel systems with effective pore apertures typically in the 3–10 Å range. These channels act as molecular sieves that (1) physically confine small drug molecules, (2) limit access of degradative agents, and (3) contribute to sustained release. The aluminosilicate framework bears negative charge balanced by exchangeable cations (Na+, K+, Ca2+), providing a strong ion-exchange mechanism that can be exploited to load cationic drugs or to replace native cations with drug-containing species for controlled desorption. Surface modification and composite formation expand application versatility. Grafting of organic groups, adsorption of polymers, or incorporation into polymeric matrices increases surface area, tunes hydrophilicity/hydrophobicity, and creates steric barriers to diffusion. Such modifications enable higher drug loading, dual delivery of hydrophilic and hydrophobic actives, pH-responsive release, and prolonged release kinetics. Typical strategies include: (a) cation-exchange loading for ionic or polar molecules; (b) impregnation/adsorption for nonionic drugs; (c) surface silanization or polymer coating to control interfacial interactions; and (d) embedding zeolites in biodegradable polymers to obtain composite implants or films. Preclinical studies and formulation reports demonstrate stable and sustained release from zeolite-based systems for diverse therapeutics: nonsteroidal anti-inflammatory drugs, certain chemotherapeutics, antibiotics, antidiabetic agents, gastroprotective drugs, and neuroprotective compounds. Key performance metrics include extended-release half-life, reduced burst release, protection from acidic gastric conditions, and preserved bioactivity after release. However, performance depends strongly on zeolite type, particle size, porosity, degree of ion exchange, surface treatment, and the drug’s physicochemical properties. Safety and process considerations: Natural zeolites generally show acceptable biocompatibility but must be characterized for impurities (e.g., heavy metals, asbestos-like minerals) and endotoxin content. Particle size and morphology affect cellular interactions and clearance; nanoscale zeolites can enhance loading and release control but require rigorous toxicity evaluation. Processing methods (acid/base activation, thermal treatment, milling) alter surface chemistry and must be optimized to balance loading capacity and safety. Compatibility of antiscalants, buffers, or chelating agents with downstream drug recovery or biological environments must be tested.
Materials and Methods:
This review analyzed 32 papers (2000–2026) from Scopus and Web of Science on the structure, properties, and drug delivery applications of natural zeolites.
Conclusion
Natural zeolites, particularly clinoptilolite and mordenite, present a cost-effective and adaptable platform for controlled drug delivery owing to their molecular-sieve behavior, ion-exchange capacity, and amenability to surface engineering. Future research priorities include systematic toxicological profiling, scalable, reproducible modification protocols, and development of targeted or stimuli-responsive zeolite-polymer composites for site-specific and on-demand release. Optimizing zeolite composition, surface functionality, and composite architecture will be critical to translate promising laboratory results into clinically viable drug-delivery products.
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