Hemophilia: The Royal Disease

Hemophilia is a genetic disease that impairs the normal process of blood clotting and results in uncontrolled external and internal bleeding. Injuries, surgeries, and dental procedures can result in prolonged external bleeding in people with hemophilia. They also experience uncontrolled bleeding of the joints, muscles, digestive system, and brain, either spontaneously or from accidents. The reader of the book will learn how a definitive diagnosis of hemophilia is made by clinical tests of blood clotting time and measurements of clotting factor levels in blood. The book describes how hemophilia A and B are caused by mutations in the genes for clotting factor VIII and clotting factor IX, respectively. Both genes are carried on X chromosome, resulting in a sex-linked recessive pattern of inheritance. Almost all children born with hemophilia A and B are boys. Hemophilia C is inherited in an autosomal recessive manner, is caused by mutations in the clotting factor XI gene on chromosome 4, and occurs in males and females with equal frequency. The book describes the use of factor replacement therapy to treat hemophilia. It evaluates the prospects for curing hemophilia through gene therapy and explains how genome editing might be used in the future to correct the gene mutations underlying hemophilia.

• | Author: Todd Eckdahl
• | Publisher: Momentum Press
• | Publication Date: Oct 11, 2016
• | Number of Pages: 100 pages
• | Language: English
• | Binding: Paperback
• | ISBN-10: 1944749632
• | ISBN-13: 9781944749637