• Clinical and Experimental Pediatrics
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• 제49권8호
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• pp.821-829
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• 2006

Hemophilia is the most common coagulation disorder. It has a long history. Hemophilia A is caused by FVIII gene mutation, and hemophilia B by FIX gene mutation. Those genes are located on X chromosome long arm. Bleedings in hemophiliacs predominantly occur in joints and muscles. Because those site are insufficient in tissue factor to induce hemostasis. Among joints knee, ankle and elbow are most frequently affected because their synovial structure is vulnerable to injury compared to other joints. Hemophilia is diagnosed with factor assay. Severe hemophilia is below 1% of FVIII : C, moderate between 1% and 5%, mild over 5%. Carrier detection and prenatal diagnosis have been conducted with RFLP-based linkage analysis and DNA sequencing. Mainstay of treatment is factor replacement therapy so far. Bleedings can be controlled by infusion of factor concentrates. Hemophilc arthropathy and muscle contracture are representative sequelae. Complications of facotor replacement therapy are inhibitor development and infections. Hemophiliacs with inhibitor should be managed with large dose factor concentrate, bypassing agent, ITI and immunosuppression. Ultimately, hemophilia could be cured by gene therapy.

• 대한장애인치과학회지
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• 제14권2호
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• pp.102-105
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• 2018

중등도의 혈우병 A 환아와 중증의 혈우병 B 환아가 응고인자 투여 후 전신마취 하에 각각 매복 과잉치 발거술 및 다수 유치의 우식치료를 받았다. 이와 같이 혈우병 환자의 치과치료 시에는 부족한 응고인자를 보충해주는 등의 응고인자 수준의 관리와 복잡한 의과적 처치 및 술 후 관리가 요구된다. 또한 치과치료 시 출혈을 유발되지 않도록 주의해야 하며 응급 상황 등에 대비하여 국소적 지혈 방법 등을 숙지하고 있는 것이 필요하다.

• 근관절건강학회지
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• 제11권2호
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• pp.119-126
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• 2004

Purpose: The purpose of this study was to identify health problem and joint bleeding, disability according to severity in patients with hemophilia. Method: The research design was survey study for conformed severity in patients with hemophilia, health problem and bleeding of joint and degree of limitation. The subjects were 186 men in patients with hemophilia by convenience sampling. These results were analyzed statistically by frequency, percentage, t-test, chi-square. Result: 1. Health problem of severe hemophilia patients were significantly higher than moderate group(t=3.17, p=.002). A severe hemophilia patients were significantly higher than moderate group in health problem of socio-psychological, emotional, physical, interpersonal. 2. There was relation between severity and the frequency of bleeding($X^{2}=7.642$, p=.054). 3. A severe hemophilia patients were more than moderate group in disability of ankle joint(t=2.52, p=.013). Conclusion: A severe hemophilia patients has more severe problems than moderate patient in case of health problem, joint bleeding and degree of disability.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.1-8
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• 2010

Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity of factor VIII, and in turn the severity of bleeding episodes and development of alloantibodies against factor VIII (inhibitors). Missense mutations are the most common genetic risk factors for hemophilia A, especially mild to moderate cases, but carry the lowest risk for inhibitor development. On the other hand, intron 22 inversion is the most common mutation associated with severe hemophilia A and is associated with high risk of inhibitor formation. Large deletions and nonsense mutations are also associated with high risk of inhibitor development. Additional mutations associated with hemophilia A include frameshift and splice site mutations. It is therefore valuable to assess the mutational backgrounds of hemophilia A patients in order to to interpret their symptoms and manage their health problems.

• Archives of Plastic Surgery
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• 제39권2호
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• pp.150-153
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• 2012

Hemophilia B is a rare blood coagulation disorder. Complications such as bleeding and hematoma can cause necrosis of flaps, wound disruption, and the disturbance of wound healing. In particular, guidelines for flap operations in hemophilia B patients have still not been defined, and case reports are rare. We reconstructed the heel of a 41-year-old male hemophilia B patient using a reverse sural artery flap operation. The patient presented with mild hemophilia, having 27% of the normal value of coagulation factor IX. Coagulation and the changing value of the coagulation factor were regularly measured, and 70% of the normal value of coagulation factor IX was maintained through the injection of recombinant coagulation factors and antihemorrhagics. Hematoma developed twice (postoperative day [POD] 5 and POD 7) and in each case the hematoma was removed. Injections of recombinant coagulation factors and antihemorrhagics were continuously administered until postoperative week 2. When the coagulation factors were within normal ranges. In this article, a hemophilia B patient underwent reverse sural artery flap surgery and the healing progress was analyzed. We conclude that higher than baseline levels of coagulation factors are needed for successful healing in reverse sural artery flap surgery.

• 기본간호학회지
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• 제7권1호
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• pp.30-41
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• 2000

This study was done to provide a firsthand description and analysis of phenomenological data of the singular, subjective and lived experience of patients with hemophilia. Sixe patients suffering from hemophilia were selected for this study. Data were collected from May to August, 1999 through in-depth interviews. The phenomenological method described by Colaizzi was used for the phenomenogical analysis of the data. After transcribing the recorded interview, the researchers read the data repeatedly to identify significant statements, restated them succinctly, and then formulated meanings, themes, theme clusters, and categories. The formulated meanings were grouped into six categories : fear, loneliness, frustration, sypmtoms of hemophilia, reception of support, and commitment. An exhaustive description of the experience of hemophilia can be deduced from this study. It is as follows: even though patients with hemophilia feel fear, loneliness and frustrations and suffer from symptoms of their disease such as bleeding, pain and functional disorders, they commit themselves to the maintenance of good health and enthusiastic life style with the help of support resources such as family members.

• Journal of Interdisciplinary Genomics
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• 제4권1호
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• pp.15-18
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• 2022

Hemophilia A is a rare X-linked congenital deficiency of clotting factor VIII (FVIII) that is traditionally diagnosed by measuring FVIII activity. Various mutations of the FVIII gene have been reported and they influence on the FVIII protein structure. A deficiency of or reduction in FVIII protein manifests as spontaneous or induced bleeding depending on the disease severity. Mutations of the FVIII gene provide important information on the severity of disease and inhibitor development. FVIII mutations also affect the discrepant activities found using different FVIII assays. FVIII activity is affected differently depending on the mutation site. Long-range PCR is commonly used to detect intron 22 inversion, the most common mutation in severe hemophilia. However, point mutations are also common in patients with hemophilia, and direct Sanger sequencing and copy number variant analysis are being used to screen for full mutations in the FVIII gene. Advances in molecular genetic methods, such as next-generation sequencing, may enable accurate analysis of mutations in the factor VIII gene, which may be useful in the diagnosis of mild to moderate hemophilia. Genetic analysis is also useful in diagnosing carriers and managing bleeding control. This review discusses the current knowledge about mutations in hemophilia and focuses on the clinical aspects associated with these mutations and the importance of genetic analysis.

• 성인간호학회지
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• 제18권1호
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• pp.71-80
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• 2006

Purpose: This study was to investigate the factors influencing the quality of life of patients with hemophilia and to provide the data for health promoting intervention in order to improve their quality of life. Method: The subjects of this study were involved 186 male patients with hemophilia by convenience sampling. These results were analyzed statistically by frequency, percentage, t-test, ANOVA, Pearson Correlation Coefficient, and Stepwise multiple regression. Results: There were significant differences in the quality of life according to the frequency of bleeding. Quality of life showed negative relationships and health problems, bleeding, limitation of joint motion, and depression with stepwise Multiple Regression analysis for quality of life revealed that the most powerful predictor was depression. Depression, health problem, and limitation of joint motion accounted for 64.6% of the variance in the quality of life of patients with hemophilia. Conclusion: Therefore it is necessary to develop nursing interventions with these variables to increase the quality of life for patients with hemophilia.

• Child Health Nursing Research
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• 제14권2호
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• pp.195-202
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• 2008

Purpose: The purpose of this study was to investigate parenting attitudes and to identify factors influencing this parenting attitude in mothers of children with hemophilia. Method: The participants in this study were 119 mothers of children with hemophilia (under 18 years of age) who were registered members of the Korea Hemophilia Foundation. Data were collected using the Mother-Infant Attachment Scale, Maternal Guilt Scale and Parenting Attitude Scale. The collected data were analyzed using SPSS program. Results: The parenting attitude was 3.02 (total possible score=4). By subcategories, achievement attitude was the highest (3.45). Of the factors influencing parenting attitudes, mother-child attachment, maternal guilt and self-esteem account for 45.6% of the variance. Conclusion: The findings of this study show that attitudes of parents of children with hemophilia were positive. As mother-child attachment and maternal guilt were identified as major factors in predicting parenting attitudes, there is a need to consider interventions that will increase mother-child attachment and decrease maternal guilt.

• 성인간호학회지
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• 제14권4호
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• pp.635-644
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• 2002

Purpose: This research was done to establish a theoretical foundation for the adjustment process of patients with hemophilia. Method: For this study, 14 patients with hemophilia participated. The data was collected through the in-depth interviews and analysed in terms of Strauss and Corbin's grounded theory methodology. Result: The core category was identified with "uncertainty". The adjustment process was classified into two stages: the 'unstable stage' before the moment they learn about the Hemophilia Foundation and the 'stable stage' since then. The two stages were further divided into four groups, namely 'the stage of isolation ', 'the stage of maintaining survival', 'the stage of pursuing hope', 'the stage of ambivalence'. The categories of these stages include a series of subcategories to describe the adjustment of patients. The quality of life for these patients has increasingly improved based on support from hemophiliac organizations. But due to the uncertainty of disease, the patients have four stages of adjustment process from the stage of isolation to that of ambivalence and might turn to feedback. Conclusion: Therefore the nursing interventions reflecting adjustment process of patients with hemophilia should be developed.