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hemophilia review

Sarah L Sheu
Tranexamic acid is a procoagulant agent that is approved by the US Food and Drug Administration for treatment of menorrhagia and to prevent hemorrhage in patients with hemophilia undergoing tooth extractions. Through its inhibitory effects on the plasminogen activation pathway, tranexamic acid also mitigates the UV radiation-induced pigmentation response. Systemic tranexamic acid has consistently been reported as an effective treatment of melasma, though its broad use may be limited by the risk for thromboembolism...
February 2018: Cutis; Cutaneous Medicine for the Practitioner
Hilda Luna-Záizar, José Ángel González-Alcázar, Natalia Evangelista-Castro, Lilia Beatriz Aguilar-López, Sandra Luz Ruiz-Quezada, Claudia Patricia Beltrán-Miranda, Ana Rebeca Jaloma-Cruz
Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development. We aimed to investigate prevalence of Inv22 and Inv1 mutations, and its association as risk factors for developing inhibitors to FVIII. We investigated Inv22 and Inv1 in 255 SHA Mexican patients from 193 unrelated families using the inverse shifting-polymerase chain reaction (IS-PCR)...
February 23, 2018: Blood Cells, Molecules & Diseases
Melissa M Cushing, James Kelley, Ellen Klapper, David F Friedman, Ruchika Goel, Nancy M Heddle, Courtney K Hopkins, Julie Katz Karp, Monica B Pagano, Ajay Perumbeti, Glenn Ramsey, John D Roback, Joseph Schwartz, Beth H Shaz, Philip C Spinella, Claudia S Cohn, Claudia S Cohn, Melissa M Cushing, James Kelley, Ellen Klapper
BACKGROUND: The AABB compiles an annual synopsis of the published literature covering important developments in the field of Transfusion Medicine. For the first time, an abridged version of this work is being made available in TRANSFUSION, with the full-length report available as an Appendix S1 (available as supporting information in the online version of this paper). STUDY DESIGN AND METHODS: Papers published in 2016 and early 2017 are included, as well as earlier papers cited for background...
March 9, 2018: Transfusion
Qizhen Shi
Gene therapy is an attractive approach for disease treatment. Since platelets are abundant cells circulating in blood with the distinctive abilities of storage and delivery and fundamental roles in hemostasis and immunity, they could be a unique target for gene therapy of diseases. Recent studies have demonstrated that ectopic expression of factor VIII (FVIII) in platelets under control of the platelet-specific promoter results in FVIII storage together with its carrier protein von Willebrand factor (VWF) in α-granules and the phenotypic correction of hemophilia A...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
Mesude Falay, Mehmet Senes, Dogan Yücel, Turan Turhan, Simten Dagdaş, Melike Pekin, Namik K Nazaroglu, Gülsüm Özet
BACKGROUND: This study is a retrospective evaluation of patients who were subject to mixing study in our laboratory due to prolonged APTT. The preliminary diagnoses, clinical manifestations, and results of additional ordered tests were reviewed. The study aims to investigate whether repeating APTT test with a different assay prior to performing mixed study in patients with prolonged APTT would be a better alternative algorithmic approach in order to save both time and costs. METHODS: We retrospectively evaluated 166 patients (65 females and 101 males) who were subject to mixing study due to isolated prolonged APTT...
February 27, 2018: Journal of Clinical Laboratory Analysis
S J Schep, R E G Schutgens, K Fischer, M L Boes
At first sight the bleeding disorder hemophilia A seems to have little in common with immune disorders, but immunology research intersects with other disciplines including hematology. Nowadays, the most important complication in the treatment of hemophilia A is the development of neutralizing antibodies (inhibitors) against exogenous administered factor VIII (FVIII), which occurs in approximately 30% of all patients with severe hemophilia A. This antibody response renders FVIII replacement therapy ineffective, thereby increasing the risk for uncontrollable bleeding and morbidity, decreasing quality of life and increasing healthcare costs...
February 15, 2018: Blood Reviews
E Carlos Rodriguez-Merchan
BACKGROUND: Several methods have been investigated to effectively and safely transmit genes that stimulate cells to release therapeutic factor VIII (FVIII) and factor IX (FIX) into the circulation of people with hemophilia (PWH). OBJECTIVE: To review the role of gene therapy (GT) in PWH. METHODS: A Cochrane Library and PubMed (MEDLINE) search related to the role of GT in hemophilia was analyzed. RESULTS: The most promising vectors for hemophilia GT are adeno-associated virus (AAV) and lentivirus...
February 14, 2018: Current Gene Therapy
H C A M Hazendonk, I van Moort, R A A Mathôt, K Fijnvandraat, F W G Leebeek, P W Collins, M H Cnossen
Replacement therapy with clotting factor concentrates (CFC) is the mainstay of treatment in hemophilia. Its widespread application has led to a dramatic decrease in morbidity and mortality in patients, with concomitant improvement of quality of life. However, dosing is challenging and costs are high. This review discusses benefits and limitations of pharmacokinetic (PK)-guided dosing of replacement therapy as an alternative for current dosing regimens. Dosing of CFC is now primarily based on body weight and based on its in vivo recovery (IVR)...
January 31, 2018: Blood Reviews
Pauline Balkaransingh, Guy Young
The evolution of hemophilia treatment and care is a fascinating one but has been fraught with many challenges at every turn. Over the last 50 years or so patients with hemophilia and providers have witnessed great advances in the treatment of this disease. With these advances, there has been a dramatic decrease in the mortality and morbidity associated with hemophilia. Even with the remarkable advancements in treatment, however, new and old challenges continue to plague the hemophilia community. The cost of factor replacement and the frequency of infusions, especially in patients with severe hemophilia on prophylaxis, remains a significant challenge for this population...
February 2018: Therapeutic Advances in Hematology
Walter Alexander
We review key sessions on Hodgkin's lymphoma, diffuse large B-cell lymphoma, thromboembolism, hemophilia, sickle cell disease, and chronic lymphocytic leukemia.
February 2018: P & T: a Peer-reviewed Journal for Formulary Management
José María Bastida, María Teresa Cano-Mozo, Felix Lopez-Cadenas, Victor Eduardo Vallejo, Soraya Merchán, Cecilia Santos-Montón, David González-Calle, Javier Carrillo, Ana Africa Martín, Jose Angel Torres-Hernández, Marcos González, Francisco Martín-Herrero, Pedro Pabón, Jose Ramon González-Porras
BACKGROUND: Acquired hemophilia A (AHA) is a rare bleeding disease caused by autoantibodies against factor VIII. Spontaneous bleeding symptoms usually affect the skin and muscle, while pericardial effusion is an extremely rare manifestation. In the elderly, anticoagulant treatment is frequent and bleeding symptoms are usually associated with this. CLINICAL FINDINGS: We report a hemorrhagic pericardial effusion as the AHA debut in a patient with untreated chronic lymphocytic leukemia and anticoagulated with apixaban for atrial fibrillation and chronic arterial ischemia...
November 2017: Medicine (Baltimore)
Dan Lu, Fanyi Zeng
Current treatment for hemophilia A is based on replacement therapy that is the most effective method by using recombinant clotting factor FⅧ (rFⅧ). Although the safety and effectiveness of replacement therapy has been proved by clinical practice for the last decades, FⅧ products are temporally limited because of a short half-life and requiring prophylactic injections frequently for most patients, usually three times per week or every other day. Frequent intravenous injection not only brings physical pain to the patient, but also produces FⅧ antibodies that seriously affect the treatment effect...
January 25, 2018: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
Xionghao Liu, Mujun Liu, Lingqian Wu, Desheng Liang
Gene therapy provides hope for curing monogenic diseases caused by mutations in a single gene. Hemophilia and Duchenne muscular dystrophy (DMD) are ideal target diseases of gene therapy. Important advances have been made in clinical trials, such as AAV vectors in hemophilia and antisense in DMD. However, issues of high does of viral vectors, limited system delivery efficiency of antisense oligonucleotides (AOs) remain to be addressed. In addition, as an alternative strategy to classic gene addition, genome editing based on programmable nucleases has shown promise to in situ correct mutations...
January 24, 2018: Human Gene Therapy
Bartholomew J Tortella, José Alvir, Margaret McDonald, Dean Spurden, Patrick F Fogarty, Amit Chhabra, Andreas M Pleil
BACKGROUND: Hemophilia B requires replacement therapy with factor IX (FIX) coagulation products to treat and prevent bleeding episodes. A recently introduced extended half-life (EHL) recombinant FIX replacement product provided the opportunity to compare the amount of dispensed factor and expenditures for EHL treatment compared with a standard half-life (SHL) product. OBJECTIVE: To determine factor international units (IUs) dispensed and expenditures associated with switching from nonacog alfa, the most commonly used SHL replacement product, to eftrenonacog alfa, an EHL FIX replacement product...
January 24, 2018: Journal of Managed Care & Specialty Pharmacy
Cynthia E Dunbar, Katherine A High, J Keith Joung, Donald B Kohn, Keiya Ozawa, Michel Sadelain
After almost 30 years of promise tempered by setbacks, gene therapies are rapidly becoming a critical component of the therapeutic armamentarium for a variety of inherited and acquired human diseases. Gene therapies for inherited immune disorders, hemophilia, eye and neurodegenerative disorders, and lymphoid cancers recently progressed to approved drug status in the United States and Europe, or are anticipated to receive approval in the near future. In this Review, we discuss milestones in the development of gene therapies, focusing on direct in vivo administration of viral vectors and adoptive transfer of genetically engineered T cells or hematopoietic stem cells...
January 12, 2018: Science
Matteo Rota, Paolo A Cortesi, Roberto Crea, Alessandro Gringeri, Lorenzo G Mantovani
Anti-inhibitor coagulant complex (AICC), an activated prothrombin complex concentrate, has been available for the treatment of patients with inhibitors since 1977, and thromboembolic events (TEEs) have been reported after infusion of AICC in patients with congenital or acquired hemophilia. With the aim of estimating the TEE incidence rate (IR) related to AICC exposure in these patients, a systematic review of the literature was carried out in Medline, according to PRISMA guidelines, from inception date to March 2017...
December 12, 2017: Blood Advances
Lindsey A George
Concurrent with the development of recombinant factor replacement products, the characterization of the F9 and F8 genes over 3 decades ago allowed for the development of recombinant factor products and made the hemophilias a target disease for gene transfer. The progress of hemophilia gene therapy has been announced in 3 American Society of Hematology scientific plenary sessions, including the first "cure" in a large animal model of hemophilia B in 1998, first in human sustained vector-derived factor IX activity in 2011, and our clinical trial results reporting sustained vector-derived factor IX activity well into the mild or normal range in 2016...
December 12, 2017: Blood Advances
Fadi Farhat, Alfredo Torres, Wungki Park, Gilberto de Lima Lopes, Raja Mudad, Chukwuemeka Ikpeazu, Simon Abi Aad
Biologic agents are currently the fastest emerging segment of drug expenditure. Unlike chemically synthesized small-molecule drugs, biologics are more complex, medicinal products produced by a living organism. They have become part of the standard of care in the treatment of a large variety of diseases, such as growth disorders, autoimmune diseases, cancer, cardiovascular illnesses, hemophilia, and rare genetic conditions, to name a few. Biosimilars, which are copies of biologics that are highly similar, were introduced in the market with an aim to offer efficacy that is not clinically different from the originator or reference product, at lower prices...
December 28, 2017: Oncologist
S Nguyen, X Lu, Y Ma, J Du, E Y Chang, A von Drygalski
BACKGROUND: There is increasing demand for musculoskeletal ultrasound (MSKUS) to detect hemophilic joint bleeding, but there is uncertainty regarding blood detection concentration thresholds or if magnetic resonance imaging (MRI) is more accurate. AIMS: Compare the sensitivity of blood detection by MSKUS and MRI. METHODS: Increasing blood concentrations in plasma were imaged with MSKUS and MRI 1-2 hours, 3-4 days and 7 days after blood withdrawal in vitro, and after injection into cadaveric pig joints...
December 23, 2017: Journal of Thrombosis and Haemostasis: JTH
Hassan Mansouritorghabeh, Zahra Rezaieyazdi
Bleeding disorders, including hemophilia, can be seen in every ethnic population in the world. Among various bleeding disorders, reduced bone density has been addressed in hemophilia A. In recent years, there has been an increasing interest in addressing osteopenia and osteoporosis in hemophilia A. There is little or no study about the possible susceptibility of other individuals with bleeding disorders to reduced bone density. Questions have been raised about the role of blood coagulation factors in bone mineralization...
November 2017: Journal of Bone Metabolism
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