Uncontrolled Bleeding from Hemophilia will present hemophilia, or clotting factor deficiency, as an inherited disease of the blood that affects internal and external blood clotting. It will describe the most common type of hemophilia, hemophilia A, and the less common forms hemophilia B and hemophilia C. It will describe the symptoms associated with hemophilia of longer bleeding from internal tissue damage or external minor or major lacerations to the skin. The book will describe how a definitive diagnosis of hemophilia is made by test of clotting time and measurements of clotting factor levels. It will discuss additional health issues that can arise for someone living with hemophilia, such as the risks of severe internal bleeding, damage to joints, and opportunistic infections. The book will describe how hemophilia A and B are caused by mutation in the factor VIII and factor IX genes, respectively. Since both genes are on the X chromosome, the pattern of inheritance of hemophilia A and B is sex-linked recessive. The book will explain how hemophilia C is caused by a mutation in the factor XI gene on chromosome 4, resulting in an autosomal recessive pattern of inheritance. It will present rates of occurrence of the three types of hemophilia, such as the rate of 1 in 5000 live births in the U.S. for hemophilia A. The book will explore factors that affect patients with hemophilia such as body weight, physical activity, and physiology. It will address the interaction of the clotting factor proteins with other proteins in the clotting cascade. The book will describe the available treatments for hemophilia patients. It will describe the process by which clotting factors are safely produced and administered. The book will present options for hemophilia therapy, such as drugs that help stop bleeding and prevent the breakup of clots. The book will present possibilities for earlier, more accurate, and more accessible diagnosis of hemophilia. It will present the process by which preimplantation genetic diagnosis of IVF embryos can be used to avoid the occurrence of hemophilia. The book will present prophylactic treatment of hemophilia with clotting factor replacement. This book will evaluate gene therapy as a way cure hemophilia by delivery of the normal clotting factor genes to patients. The book will conclude with a summary of the main points of the book in a way that connects all of the books and points toward the future of hemophilia detection, treatment, therapy, and cures.
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