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.Histopathological diagnosis of external genital epithelioid sarcoma
Munkhbat T ; Undarmaa E ; Saruul G ; Jigjidsuren A ; Dashjantsan G
Mongolian Medical Sciences 2025;214(4):72-74
Epithelioid sarcoma is a rare aggressive soft tissue sarcoma, which can be distal or proximal
types. The classic form (distal-type) of epithelioid sarcoma mainly occurs in teenagers and
young adults. A rarer form, called large-cell (proximal-type) epithelioid sarcoma, tends to
be more aggressive and mainly affects adults. The proximal subtype mostly arises from the
proximal pelvis, limbs, and genital tract. We report case of a 24 -year-old female, presented
the Uvurkhangai RDTC in 2024. The histological study showed a multinodular tumor was
seen comprising sheets of oval to polygonal cells with moderate amount of cytoplasm.
Interspersed were larger, rhabdoid cells with abundant eosinophilic cytoplasm and prominent
nucleoli.
3. Study of practical significance the first embrace
Otgontugs L ; Bolortuya B ; Oyun-Erdene L ; Saruul P ; Urnaa T ; Enkhtuya T ; Shatar SH
Innovation 2016;10(2):32-36
The Western Pacific Region have the highest neonatal mortality rate of any country in the world. It has 37 countries and areas with approximately 1.8 billion people which comprises one-fourth of the total world population. The First Embrace It is care for all mothers and newborn infants. The components of the First Embrace are immediate and thorough dying, appropriately timed clamping and cutting of the cord, skin to skin contact and initiating exclusive breastfeeding for all newborns. Aim: First embrace and Early Essential Neonatal Care the importance of infant seeks to to learn some of the problems faced by identifying the skills of medical personnel. We were conducted in this study by a cross sectional questionnaire in order to assess the knowledge, attitude and practices of healthcare providers about essential newborn care and administrated a structured questionnaire to evaluate instruments and materials of the maternity wards.Skin to skin contact and a mother first embrace is the beginning of a healthy life is to reduce the newborn mortality. And the first embrace is improves the children’s immunity. We determined urgent problems for EENC including a lack of maternal health education, inadequate salaries for health care providers, a lack of essential medicines and commodities for birth preparation and numbers of health care providers delivering neonatal intensive care are increased due to the stillbirth rate has increased dramatically year by year.The first embrace is important to reduce neonatal mortality rate and 92.0% of all participants have the enough experiences for the first embrace care and 80.3% of all participants for the EENC.
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