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Journal articles on the topic 'Hemophilia – Genetics'

Author: Grafiati

Published: 30 June 2021

Last updated: 29 July 2025

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1

Knox, David, Christopher Samuel, Janneth Pazmino-Canizares, et al. "The Genetics of Hemophilia: Analysis of Patients at the Hospital for Sick Children, Toronto, Canada." Blood 108, no. 11 (2006): 1040. http://dx.doi.org/10.1182/blood.v108.11.1040.1040.

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Abstract There is great interest in identifying genetic mutations responsible for hemophilia and in determining if/how mutations correlate with disease phenotype. A hemophilia genetic database was created at SickKids in 2004. At the time &lt;40% of hemophiliacs followed by the clinic had been genotyped. Currently mutations have been identified on 194/236 patients (82%) followed in the clinic. From this we are performing genotype/phenotype correlations. Preliminary analysis has revealed the following novel findings: Most mothers of hemophiliacs are carriers; even when there is a no family h

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2

Lawn, Richard M., and Gordon A. Vehar. "The Molecular Genetics of Hemophilia." Scientific American 254, no. 3 (1986): 48–54. http://dx.doi.org/10.1038/scientificamerican0386-48.

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3

Iurea, Iasmina-Maria, Emilia Severin, and Alexandra Matei. "Transforming Hemophilia A Care: Insights into New Therapeutic Options." Life 14, no. 12 (2024): 1568. http://dx.doi.org/10.3390/life14121568.

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Hemophilia A is a hereditary bleeding disorder characterized by a deficiency in clotting factor VIII, leading to significant morbidity and a reduced quality of life. This review provides an updated overview of the current understanding of hemophilia A, highlighting its genetic underpinnings and advancements in treatment strategies. A literature review was conducted using various available databases. Relevant studies on hemophilia A, covering genetics and treatment options, were selected and summarized. Recent developments in gene therapy are discussed, showcasing their potential to offer long-

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4

Badescu, Minerva Codruta, Manuela Ciocoiu, Elena Rezus, et al. "Current Therapeutic Approach to Acute Myocardial Infarction in Patients with Congenital Hemophilia." Life 11, no. 10 (2021): 1072. http://dx.doi.org/10.3390/life11101072.

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Advances in the treatment of hemophilia have made the life expectancy of hemophiliacs similar to that of the general population. Physicians have begun to face age-related diseases not previously encountered in individuals with hemophilia. Treatment of acute myocardial infarction (AMI) is particularly challenging because the therapeutic strategies influence both the patient’s thrombotic and hemorrhagic risk. As progress has been made in the treatment of AMI over the last decade, we performed an in-depth analysis of the available literature, highlighting the latest advances in the therapy of AMI

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5

Fernández, Raquel M., Ana Peciña, Beatriz Sánchez, et al. "Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview." BioMed Research International 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/406096.

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Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemo

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6

Geddes, Valerie A., and Ross T. A. MacGillivray. "The Molecular Genetics of Hemophilia B." Transfusion Medicine Reviews 1, no. 3 (1987): 161–70. http://dx.doi.org/10.1016/s0887-7963(87)70018-2.

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7

Chuansumrit, Ampaiwan, Werasak Sasanakul, Ian Williams, Anne Goodeve, Praguywan Kadegasem, and Ian Peake. "Comparison of Phenotypic Assessment and Mutation Detection in the Diagnosis of Carrier State in Hemophilia: Identification of 10 Novel Mutations." Blood 104, no. 11 (2004): 4020. http://dx.doi.org/10.1182/blood.v104.11.4020.4020.

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Abstract The carrier state in 54 females (A38, B16) at risk from 35 moderate and severe hemophilia families (A25, B10) in Thailand, was determined. They were classified as obligate (A17, B8) and possible (A21, B8) carriers by history taking. The phenotypic assessment was performed in two subsequent blood samples taken one week apart when they were not pregnant or on birth control pills. Then, molecular genetics among hemophiliac patients were performed. Inversion of intron 22 among 25 hemophilia A patients was initially performed. Then, the mutations were intensively detected by using conforma

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8

Chudley, Albert E., and James C. Haworth. "Genetic landmarks through philately - hemophilia." Clinical Genetics 56, no. 4 (1999): 279–81. http://dx.doi.org/10.1034/j.1399-0004.1999.560404.x.

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9

Astermark, Jan, John Schwarz, Sharyne M. Donfield, et al. "Genetic Factors Associated with Inhibitor Development in Hemophilia A: Initial Results From the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort." Blood 114, no. 22 (2009): 217. http://dx.doi.org/10.1182/blood.v114.22.217.217.

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Abstract Abstract 217 Introduction: Both genetic and environmental factors have been implicated as potential risk factors for the development of inhibitory factor VIII (FVIII) antibodies. Previous studies suggest that genetic factors are of major importance. The causative FVIII mutation likely sets the stage for inhibitor risk, with other genetic markers important in determining the final outcome. Data suggest that the process of inhibitor development is complex, involving a variety of immune regulatory genes, several of which have the potential to modify risk. Through a collaboration among th

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10

Kehl, Alexandra, Anita Haug Haaland, Ines Langbein-Detsch, and Elisabeth Mueller. "A SINE Insertion in F8 Gene Leads to Severe Form of Hemophilia A in a Family of Rhodesian Ridgebacks." Genes 12, no. 2 (2021): 134. http://dx.doi.org/10.3390/genes12020134.

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Hemophilia A is the most common coagulation factor disorder in humans and dogs. The disease is characterized by the lack or diminished activity of Factor VIII (FVIII), caused by variants in the F8 gene and inherited as an X chromosomal trait. Two related male Rhodesian Ridgebacks were diagnosed with Hemophilia A due to reduced FVIII activity. The purpose of the study was to determine the genetic cause and give breeding advice for the remaining family members in order to eradicate the variant. By Sanger sequencing a short interspersed nuclear element (SINE) insertion in exon 14 of the F8 gene w

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11

Bakeer, Nihal, and Amy D. Shapiro. "Merging into the mainstream: the evolution of the role of point-of-care musculoskeletal ultrasound in hemophilia." F1000Research 8 (July 9, 2019): 1029. http://dx.doi.org/10.12688/f1000research.16039.1.

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Bleeding with resultant hemophilic arthropathy constitutes the largest cause of morbidity in patients with hemophilia. It results from repeated bleeding episodes in the joint and is characterized by synovial hypertrophy and cartilage and bony destruction. Hemophilic arthropathy assessment is a continually evolving process and is particularly challenging in children and young adults in whom joint disease may be missed or underestimated as obtaining serial “baseline” magnetic resonance imaging scans of multiple clinically asymptomatic or nearly asymptomatic joints may be unjustifiable and cost-i

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12

Guo, Xiao-Lu, Tsai-Hua Chung, Yue Qin, et al. "Hemophilia Gene Therapy: New Development from Bench to Bed Side." Current Gene Therapy 19, no. 4 (2019): 264–73. http://dx.doi.org/10.2174/1566523219666190924121836.

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Novel gene therapy strategies have changed the prognosis of many inherited diseases in recent years. New development in genetic tools and study models has brought us closer to a complete cure for hemophilia. This review will address the latest gene therapy research in hemophilia A and B including gene therapy tools, genetic strategies and animal models. It also summarizes the results of recent clinical trials. Potential solutions are discussed regarding the current barriers in gene therapy for hemophilia.

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13

Smith, Larry J. "Hemophilia." American Society for Clinical Laboratory Science 32, no. 1 (2019): ascls.2018001289. http://dx.doi.org/10.29074/ascls.2018001289.

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14

Ginsburg, David. "Molecular Genetics of von Willebrand Disease." Thrombosis and Haemostasis 82, no. 08 (1999): 585–91. http://dx.doi.org/10.1055/s-0037-1615884.

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IntroductionVon Willebrand disease (vWD) is a common inherited bleeding disorder that is notable for a high degree of variability in clinical presentation and the considerable heterogeneity of its molecular basis. Confusion about the genetic origin of this disorder has existed since its original description by Eric von Willebrand in 1926.1 Dr. von Willebrand coined the term “pseudohemophilia” to describe the disease in the original pedigree. Though it resembled the bleeding diathesis of hemophilia, von Willebrand also noted findings suggesting an abnormality in platelet function. The severity

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15

SHINOZAWA, Keiko. "Molecular genetics of coagulation disorders and hemophilia." Japanese Journal of Thrombosis and Hemostasis 35, no. 4 (2024): 497–511. http://dx.doi.org/10.2491/jjsth.35.497.

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16

Tantawy, Azza A. G. "Molecular genetics of hemophilia A: Clinical perspectives." Egyptian Journal of Medical Human Genetics 11, no. 2 (2010): 105–14. http://dx.doi.org/10.1016/j.ejmhg.2010.10.005.

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17

Gouw, Samantha C., and Karin Fijnvandraat. "Unraveling the genetics of inhibitors in hemophilia." Blood 121, no. 8 (2013): 1250–51. http://dx.doi.org/10.1182/blood-2012-12-472647.

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18

Batty, Paul, and David Lillicrap. "Advances and challenges for hemophilia gene therapy." Human Molecular Genetics 28, R1 (2019): R95—R101. http://dx.doi.org/10.1093/hmg/ddz157.

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Abstract Hemophilia is an X-linked inherited bleeding disorder, resulting from defects in the F8 (hemophilia A) or F9 (hemophilia B) genes. Persons with hemophilia have bleeding episodes into the soft tissues and joints, which are treated with self-infusion of factor VIII or IX concentrates. Hemophilia provides an attractive target for gene therapy studies, due to the monogenic nature of these disorders and easily measurable endpoints (factor levels and bleed rates). All successful, pre-clinical and clinical studies to date have utilized recombinant adeno-associated viral (AAV) vectors for fac

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19

Kavakli, Kaan, Ozgur Cogulu, Semih Aydogdu, et al. "Prospective Evaluation of Chromosomal Breakages in Hemophiliac Children after Radioisotope Synovectomy with Yttrium90 and Rhenium186." Blood 112, no. 11 (2008): 1219. http://dx.doi.org/10.1182/blood.v112.11.1219.1219.

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Abstract Radioisotope Synovectomy (RS) is defined as the intra-articular injection of radioisotopic agents with the aim of fibrosis on hypertrophic synovium in the target joint for hemophilia. Yttrium90 (Y90) and Rhenium186 (Re186) are approved isotopes in Europe. The only radioisotope which approved in the USA for RS is Phosphorus 32 (P32). We have successfully used Y90 and Re186 for 8 years in target joints of hemophiliac patients. For the last 30 years, no malignant transformation has been reported in hemophilia with RS. However, recently, development of acute lymphoblastic leukemia in two

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20

Peyvandi, Flora, Tom Kunicki, and David Lillicrap. "Genetic sequence analysis of inherited bleeding diseases." Blood 122, no. 20 (2013): 3423–31. http://dx.doi.org/10.1182/blood-2013-05-505511.

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Abstract The genes encoding the coagulation factor proteins were among the first human genes to be characterized over 25 years ago. Since then, significant progress has been made in the translational application of this information for the 2 commonest severe inherited bleeding disorders, hemophilia A and B. For these X-linked disorders, genetic characterization of the disease-causing mutations is now incorporated into the standard of care and genetic information is used for risk stratification of treatment complications. With electronic databases detailing >2100 unique mutations for hemophi

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21

Badescu, Minerva Codruta, Oana Viola Badulescu, Alexandru Dan Costache, et al. "Atherosclerosis in Patients with Congenital Hemophilia: A Focus on Peripheral Artery Disease." Life 13, no. 11 (2023): 2221. http://dx.doi.org/10.3390/life13112221.

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Advances in the treatment of hemophilia have increased the life expectancy of this population and we are currently facing diseases associated with aging, including cardiovascular ones. Coronary atherosclerosis, with acute myocardial infarction as the most severe form of manifestation, has been recognized as part of the comorbidities of hemophiliacs. However, little is known about peripheral artery disease. Available data show that hemophiliacs have cardiovascular risk factors and atherosclerosis similar to the general population. Impaired thrombus formation and phenotype of atheroma plaque rat

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22

Ghosh, Kanjaksha, PreethiS Nair, and S. Shetty. "A homozygous female hemophilia A." Indian Journal of Human Genetics 18, no. 1 (2012): 134. http://dx.doi.org/10.4103/0971-6866.96685.

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23

Johnsen, Jill, Shelley N. Fletcher, Haley Huston, et al. "Novel Approach to and Results of Genetic Analysis of 3000 Hemophilia Patients Enrolled in the MyLifeOurFuture Initiative." Blood 128, no. 22 (2016): 205. http://dx.doi.org/10.1182/blood.v128.22.205.205.

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Abstract Background Hemophilia A and B are rare X-linked bleeding disorders affecting ~1:5000 male births. Hemophilia genotype is important to inform reproductive planning, pregnancy, and neonatal management, risk of inhibitor formation and bleeding severity, and basic understanding of mechanisms of disease. In 2012, two separate surveys found only ~20% of patients with hemophilia had a genotype determined. MyLifeOurFuture (MLOF) was formed as a multi-sector collaboration between the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF), BloodworksNW (BWNW

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24

Hedner, Ulla, David Ginsburg, Jeanne M. Lusher, and Katherine A. High. "Congenital Hemorrhagic Disorders: New Insights into the Pathophysiology and Treatment of Hemophilia." Hematology 2000, no. 1 (2000): 241–65. http://dx.doi.org/10.1182/asheducation.v2000.1.241.20000241.

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The diagnostic and treatment strategies related to hemophilia are rapidly evolving. This article focuses on some of the issues of importance. Diagnostic advances in molecular genetics are reviewed by Dr. Ginsburg in Section I, including the current state of knowledge regarding the mutations responsible for hemophilia, with reference to the potential clinical applications of DNA diagnosis and prenatal testing. Within the area of new therapeutic approaches in hemophilia, recombinant factor VIII and factor IX concentrates, their use and availability are addressed by Dr. Lusher in Section II as we

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25

Hedner, Ulla, David Ginsburg, Jeanne M. Lusher, and Katherine A. High. "Congenital Hemorrhagic Disorders: New Insights into the Pathophysiology and Treatment of Hemophilia." Hematology 2000, no. 1 (2000): 241–65. http://dx.doi.org/10.1182/asheducation.v2000.1.241.241.

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Abstract The diagnostic and treatment strategies related to hemophilia are rapidly evolving. This article focuses on some of the issues of importance. Diagnostic advances in molecular genetics are reviewed by Dr. Ginsburg in Section I, including the current state of knowledge regarding the mutations responsible for hemophilia, with reference to the potential clinical applications of DNA diagnosis and prenatal testing. Within the area of new therapeutic approaches in hemophilia, recombinant factor VIII and factor IX concentrates, their use and availability are addressed by Dr. Lusher in Section

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26

Chuah, Marinee K. L., Desire Collen, and Thierry VandenDriessche. "Gene therapy for hemophilia." Journal of Gene Medicine 3, no. 1 (2001): 3–20. http://dx.doi.org/10.1002/1521-2254(200101/02)3:1<3::aid-jgm167>3.0.co;2-h.

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27

Dougnon, Victorien. "Knowledge, attitudes and nursing practices on hemophilia in the university clinic of pediatrics and genetics." International journal of Microbiology and Mycology (IJMM) 19, no. 1 (2024): 1–6. https://doi.org/10.5281/zenodo.13856153.

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Hemophilia is a disease caused by a deficiency of the coagulation factors VIII and IV. It is a rare bleeding disorder characterized by abnormal blood coagulation. It manifests itself in deep bleeding, notably hemarthrosis and hematoma, as well as external hemorrhage. The aim of this study is to evaluate the management of hemophilia among the nursing staff of the University Clinic of Pediatrics and Medical Genetics of this center. This disease was the subject of a semi-directed survey in the University Clinic of Pediatrics and Medical Genetics of the CNHU-HKM, where 36 nurses on duty were surve

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28

Miller, Connie H. "The Clinical Genetics of Hemophilia B (Factor IX Deficiency)." Application of Clinical Genetics Volume 14 (November 2021): 445–54. http://dx.doi.org/10.2147/tacg.s288256.

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29

Lawn, R. M., W. I. Wood, J. Gitschier, et al. "Cloned Factor VIII and the Molecular Genetics of Hemophilia." Cold Spring Harbor Symposia on Quantitative Biology 51 (January 1, 1986): 365–69. http://dx.doi.org/10.1101/sqb.1986.051.01.044.

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30

Lee, Mi Kyung, Minwoo Hwang, Hyunjoo Oh, and Kyoung Soo Kim. "Analysis of Sasang Constitutional Medicine as an Optimal Preventive Care Strategy for Hemophilia Patients." BioMed Research International 2020 (February 3, 2020): 1–5. http://dx.doi.org/10.1155/2020/4147803.

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Introduction. Medical improvements have allowed hemophilia patients to anticipate an increased quality of life and life expectancy similar to that of the general population. Analysis of the potential disease symptoms of hemophilia patients based on a survey of Sasang Constitutional Medicine (SCM) is important for optimal preventive care and adjunctive therapy to avoid life-threating complications. Aim. To predict potential disease symptoms from the viewpoint of SCM as a preventive care strategy for hemophilia patients. Methods. Sixty-one hemophilia patients responded to a survey on Sasang cons

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31

Chraibi, Amina, Hassane Mamad, Khalid Edderdouri, Adjimon Ganhoutode, Souad Benkirane, and Azlarab Masrar. "Monitoring of Hemophilia A in Morocco." Scholars Journal of Medical Case Reports 12, no. 04 (2024): 476–83. http://dx.doi.org/10.36347/sjmcr.2024.v12i04.025.

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Hemophilia A is a hemorrhagic disorder caused by a deficiency in factor VIII coagulation. Its incidence is 1 to 2 per 10,000 male births. Hemophilia A is characterized by intra-articular, mucosal, or cutaneous bleeding, and its management relies on the substitution of factor VIII with plasma derived or recombinant products. However, the major complication of treatment is the development of anti-factor VIII inhibitors, rendering substitution therapy ineffective. The aim of this study is to investigate the prevalence of anti-factor VIII inhibitors, the severity of hemophilia, and the follow-up o

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32

High, Katherine. "AAV-mediated gene transfer for hemophilia." Genetics in Medicine 4 (December 2002): 56S—61S. http://dx.doi.org/10.1097/00125817-200211001-00012.

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33

Astermark, Jan, Sharyne M. Donfield, Edward D. Gomperts, et al. "The polygenic nature of inhibitors in hemophilia A: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort." Blood 121, no. 8 (2013): 1446–54. http://dx.doi.org/10.1182/blood-2012-06-434803.

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Key Points The data demonstrate the complexity of the genetic contribution to inhibitor development in people with hemophilia A. Potentially decisive markers have been identified, indicating the importance of further evaluation of intracellular signaling pathways.

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34

Beskorovainaya, T. S., V. V. Zabnenkova, R. A. Zinchenko, O. A. Shchagina, and A. V. Polyakov. "Hemophilia B Leyden: Literature and Our Data." Russian Journal of Genetics 57, no. 10 (2021): 1131–39. http://dx.doi.org/10.1134/s1022795421100033.

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35

Evangelidis, Nikolaos, Nikolaos Kotsiou, Paschalis Evangelidis, et al. "Genetics and Epigenetics in Acquired Hemophilia A: From Bench to Bedside." Current Issues in Molecular Biology 46, no. 6 (2024): 5147–60. http://dx.doi.org/10.3390/cimb46060309.

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Acquired hemophilia A (AHA) is a bleeding disorder characterized by the immunological inhibition of factor VIII (FVIII) of the hemostatic pathway leading to hemorrhagic events. Different domains of FVIII are the target of autoantibodies (mainly immunoglobulin (Ig) G) leading to the deficiency of FVIII. Several factors have been associated with the activation of the auto-immunity towards FVIII. Emerging evidence implicates CD4+ T cell activation in mediating this autoimmune response, with their involvement like that observed in congenital hemophilia A. Several genes such as HLA II DRB*16, DQB1*

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36

Kirchweger, Gina. "The National Hemophilia Foundation's Sixth Annual Workshop on Gene Therapies for Hemophilia." Molecular Therapy 8, no. 1 (2003): 11–12. http://dx.doi.org/10.1016/s1525-0016(03)00191-6.

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37

Antonarakis, Stylianos E. "Molecular Genetics of Coagulation Factor VIII Gene and Hemophilia A." Thrombosis and Haemostasis 74, no. 01 (1995): 322–28. http://dx.doi.org/10.1055/s-0038-1642697.

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38

Jayandharan, Giridhara, Arun Srivastava, and Alok Srivastava. "Role of Molecular Genetics in Hemophilia: From Diagnosis to Therapy." Seminars in Thrombosis and Hemostasis 38, no. 01 (2012): 64–78. http://dx.doi.org/10.1055/s-0031-1300953.

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39

Saroshe, Satish, Rupali Saroshe, Madhu S. Ratre, Shaleen Khetarpal, Manish Verma, and Ram Ratre. "Assessment of oral health awareness and hygiene practice in hemophilic patients in Indore: A cross-sectional study." International Journal of Oral Health Dentistry 9, no. 4 (2024): 288–93. http://dx.doi.org/10.18231/j.ijohd.2023.053.

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: Haemophilia is a genetic X linked recessive bleeding disorder characterized by a deficiency or absence of certain clotting factors in the blood, primarily factors VIII (haemophilia A) or factor IX (haemophilia B). Dental caries and periodontal diseases are two main oral diseases affecting majority of population, but their effects are enhanced in hemophiliacs and medically compromised patients. There is a lack of epidemiological studies regarding oral health and oral hygiene of hemophilic patient especially in central India. This study therefore, aimed to evaluate the oral hygiene awareness a

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40

Pshenichnikova, O. S., and V. L. Surin. "Genetic Risk Factors for Inhibitor Development in Hemophilia A." Russian Journal of Genetics 57, no. 8 (2021): 867–77. http://dx.doi.org/10.1134/s1022795421080111.

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41

Sukarova Stefanovska, E., P. Tchakarova, G. Petkov, and G. Efremov. "Molecular Characterization of Hemophilia a in Southeast Bulgaria." Balkan Journal of Medical Genetics 11, no. 1 (2008): 55–60. http://dx.doi.org/10.2478/v10034-008-0018-9.

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Molecular Characterization of Hemophilia a in Southeast BulgariaThe results of molecular characterization of Hemophilia A in 50 patients from Southeast Bulgaria are presented. Southern blot analysis for the detection of inversions in intron 22, and polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) or de-naturing gradient gel electrophoresis (DGGE) for screening of the coding sequences of the Factor VIII (FVIII) gene were used. A molecular defect was found in 35 (70%), the most frequent being an inversion in intron 22, found in 19 (38%) patients; an intr

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42

Ça??layan, S. Hande, Yeşim Gökmen, Gülten Aktu??lu, Aytemiz Gürgey, and Steve S. Sommer. "Mutations associated with hemophilia B in Turkish patients." Human Mutation 10, no. 1 (1997): 76–79. http://dx.doi.org/10.1002/(sici)1098-1004(1997)10:1<76::aid-humu11>3.0.co;2-x.

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43

Azadmehr, Sarah, Faezeh Rahiminejad, Fatemeh Zafarghandi Motlagh, et al. "The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A." Archives of Iranian Medicine 24, no. 12 (2021): 887–96. http://dx.doi.org/10.34172/aim.2021.133.

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Background: Hemophilia A (HA) is an X-linked recessive bleeding disorder with a high rate of genetic heterogeneity. The present study was conducted on a large cohort of Iranian HA patients and data obtained from databases. Methods: A total of 622 Iranian HA patients from 329 unrelated families who had been referred to a medical genetics laboratory in Tehran from 2005 to 2019, were enrolled in this retrospective, observational study. Genetic screening of pathogenic variants of the F8 gene was performed using inverse shifting PCR, direct sequencing, and multiplex ligation-dependent amplification

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44

Johnsen, Jill M., Shelley N. Fletcher, Angela Dove, et al. "Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future (MLOF) Hemophilia Genotyping Initiative." Blood 136, Supplement 1 (2020): 19. http://dx.doi.org/10.1182/blood-2020-140649.

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Background Hemophilia A (HA) and hemophilia B (HB) are rare X-linked bleeding disorders. Hemophilia genotype is important to inform reproductive planning, pregnancy, neonatal management, inhibitor risk, disease severity, and understanding of disease mechanisms. MyLifeOurFuture (MLOF) was formed as a collaboration between the American Thrombosis and Hemostasis Network (ATHN), the National Hemophilia Foundation (NHF), Bloodworks (BW), and Biogen. Together with participating hemophilia treatment centers (HTCs), MLOF provided hemophilia genotype analysis for patients in the U.S. and created a Rese

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45

Lebo, Roger V., Marion A. Koerper, Jong Hwa Kim, Jane Chueh, and Mitchell S. Golbus. "Prenatal diagnosis of hemophilia involving grandpaternal mosaicism." American Journal of Medical Genetics 47, no. 3 (1993): 401–4. http://dx.doi.org/10.1002/ajmg.1320470321.

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46

Lundstrom, Kenneth. "RNA Viruses as Tools in Gene Therapy and Vaccine Development." Genes 10, no. 3 (2019): 189. http://dx.doi.org/10.3390/genes10030189.

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RNA viruses have been subjected to substantial engineering efforts to support gene therapy applications and vaccine development. Typically, retroviruses, lentiviruses, alphaviruses, flaviviruses rhabdoviruses, measles viruses, Newcastle disease viruses, and picornaviruses have been employed as expression vectors for treatment of various diseases including different types of cancers, hemophilia, and infectious diseases. Moreover, vaccination with viral vectors has evaluated immunogenicity against infectious agents and protection against challenges with pathogenic organisms. Several preclinical

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47

Yee, Donald L. "Platelets as Modifiers of Clinical Phenotype in Hemophilia." Scientific World JOURNAL 6 (2006): 661–68. http://dx.doi.org/10.1100/tsw.2006.133.

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Platelets occupy a central role in the maintenance of hemostasis by adhering to sites of vascular injury and facilitating thrombin generation, which leads to the formation of a fibrin clot. Patients with hemophilia exhibit defective thrombin generation secondary to reduced plasma factor concentrations, which can lead to excessive and sometimes life-threatening bleeding. Individuals differ greatly with respect to platelet function and platelets from different individuals differ inherently in their ability to enact thrombin generation, the key coagulative process that is deficient in hemophilia.

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Khurana, Harshit, and Shailendra Prasad Verma. "Perioperative management in haemophilia with extended half-life factors: a case series." F1000Research 13 (January 17, 2024): 73. http://dx.doi.org/10.12688/f1000research.142117.1.

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Hemophilia B is a hereditary bleeding disorder characterized by deficient or defective coagulation factor IX, leading to a propensity for recurrent bleeding episodes, particularly in the joints. Management of Hemophilia B in surgical settings poses unique challenges due to the risk of excessive bleeding. This paper presents a series of two cases that demonstrate the effective use of perioperative extended half-life (EHL) factor IX products, specifically N9-GP (Refixia), in the surgical management of Hemophilia B. The cases include total knee replacement and total hip replacement. In each case,

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49

Alexandre, Claudio O. P., and Israel Roisenberg. "A Genetic and Demographic Study of Hemophilia A in Brazil." Human Heredity 35, no. 4 (1985): 250–54. http://dx.doi.org/10.1159/000153554.

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Comegna, Marika, Giuseppe Maria Maruotti, Laura Sarno, et al. "Prenatal Diagnosis of Cystic Fibrosis and Hemophilia: Incidental Findings and Weak Points." Diagnostics 10, no. 1 (2019): 7. http://dx.doi.org/10.3390/diagnostics10010007.

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Because of the progression of genetics and genomics, the demand for prenatal diagnosis (PD) for inherited genetic diseases has increased. However, several incidental findings may emerge during PD, like misattributed paternity, the evidence of disease in a parent, and the possible misinterpretation of the results because of complex alleles or de novo mutations that have several implications. In a retrospective observational study on all the couples referred to our Medical School (1993–2018) for PD of genetic inherited diseases (n = 1502), we selected the cases of PD for cystic fibrosis (CF, n =

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