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.The Effect of “Hot Natured 3 Herbs” in a Tumor-Induced Model in C57BL/6 Mice
Narankhuu R ; Gansukh Ch ; Enkhsaikhan L ; Uranbileg B ; Enkhmaa D ; Odontuya G ; Chimgee Ts ; Ulziisaikhan B ; Enkhtushig G ; Sarantuya L ; Suvd O ; Amgalan B ; Sanjpurev D ; Tserendagva D ; Tsend-Ayush D ; Tserentsoo B
Mongolian Journal of Health Sciences 2025;87(3):44-53
Background:
Cancer incidence and mortality are steadily increasing both
globally and in Mongolia. As these rates rise, traditional Mongolian medicine
has long utilized herbal formulas for the treatment of gastric and esophageal
cancers and precancerous conditions. One such formulation—Hot Natured
3 Herbs (HN3H)—comprises three species from the Ranunculaceae family:
Atragene sibirica L., Ranunculus repens L., and Pulsatilla bungeana L.. However,
scientific validation of its anti-tumor effects is essential. This study aimed
to investigate the effect of HN3H in a tumor-induced animal model.
Aim:
To identify the biologically active compounds of HN3H and evaluate their
effect in an experimentally induced tumor model in animals.
Materials and Methods:
The three herbs comprising HN3H—Atragene sibirica
L., Ranunculus repens L., and Pulsatilla bungeana L.—were collected
during their flowering stage (May–June) in Khishig-Undur, Bulgan province,
and dried according to official procedures. Extraction was carried out by maceration
in 96% ethanol at a 1:10 ratio. The concentrated extract was suspended
in water (1:1) and successively fractionated with dichloromethane, ethyl
acetate, butanol, chloroform, and n-hexane. The study was approved by the
Research Ethics Committee of the Mongolian National University of Medical
Sciences (Protocol №2020/03-04). A colorectal cancer model was established
by subcutaneous injection of MC-38 cells (Kerafast, USA) into C57BL/6 mice.
Immunohistochemistry was performed using CK20, CDX2, Ki67, and p53 antibodies
at 1:100 and 1:200 dilutions.
Results:
The ethanol extract of HN3H contained 2.98±0.04% total phenolics
and 2.16±0.05% total flavonoids. Body weight and tumor volume were
measured daily with three repetitions. All groups showed a time-dependent
increase in body weight. Mice in groups 1A and 1B received ethanol extract at
50 and 100 mg/kg doses; groups 2A and 2B received dichloromethane extract
at the same doses. The negative control group was administered 0.5 mg/kg
PBS orally, while the positive control group received intraperitoneal injections
of 5-fluorouracil (5FU) at 10 mg/kg twice a week. Tumor growth increased in a
time-dependent manner across groups. Compared to the negative control, tumor
volumes in four treatment groups showed statistically significant reduction
(p˂0.05), while no significant difference was observed when compared to the
positive control (p=0.08). Histological analysis revealed necrosis in all groups,
with variation in extent.
Conclusion
The ethanol extract of HN3H exhibited moderate levels of phenolic
compounds and a high concentration of flavonoids. HN3H extract inhibited
tumor progression and activated lymphocyte-predominant inflammation in
tumor tissues, indicating potential anti-tumor activity (p˂0.05).
3.Some technological studies on obtaining granular drug formulation from “Shimshin-6” traditional prescription
Narankhuu M ; Tserendulam L ; Altansukh Ts ; Lkhaasuren R ; Tserendolgor B
Mongolian Pharmacy and Pharmacology 2022;20(1):21-24
Introduction:
Amenorrhea has still been listed as one of common diseases among women in Mongolia. Some traditional prescription for amenorrhea, used commonly in Mongolian traditional medicine, needs more attention to dig out its scientific proof of therapeutic effect on pathogenesis of some diseases. Therefore, we aimed to research Shimshin-6 traditional prescription to develop a granule formulation for amenorrhea and other female reproductive diseases, and study its qualitative and quantitative characteristics.
Material and method:
In this study, Shimshin-6 traditional prescription was randomly collected from 5 pharmaceutical manufacturers named as “Х-1, Х-2, Х-3, Х-4 and Х-5”. The collected prescriptions were granulated and optimized by a wet-granulation method. Then, granule spill weight and flow quality were detected in obtained granule formulation.
Result:
20 types of granule formulation from Shimshin-6 were obtained by using 8% and 10% of gelatin, 6% and 8% of polyvinylpyrrolidone as a binder in these formulations. As a result, the suitable binder in this formulation was detected 6% of polyvinylpyrrolidone after researching the granule spill weight and flow rate. For the granule formulations of X-1, X-2 and X-5 prescriptions, the polyvinylpyrrolidone was chosen as the suitable binder due to the result from granule spill weight of the formulation. As for the X-3 and X-4 prescriptions, gelatin was the suitable binder in these formulations. After studying the flow quality of newly obtained granule formulations from “Х- 1, Х-2, Х-3, Х-4 and Х-5”, the most suitable binder was polyvinylpyrrolidone.
Conclusion
Altogether, these results showed that the most suitable binder for granulating Shimshin-6 traditional medicine was 6% of polyvinylpyrrolidone due to the results from granule spill weight and flow rate.
Result Analysis
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