Hemophilia is a blood disorder characterized by unusually low levels of clotting factor, which prevents normal blood coagulation. As a result, people with hemophilia bleed for longer periods of time but not at a faster than normal rate. It is a recessive genetic disorder that is carried on the X chromosome, and so it affects predominantly males. The diagnosis of hemophilia in women is very rare. There are two forms of hemophilia. Hemophilia A results from a deficiency in clotting factor VIII, and hemophilia B results from a factor IX deficiency. Hemophilia A is more common, occurring in 1 in 10,000 male births, whereas hemophilia B occurs in about 1 in 34,500 males. About one third of hemophilia cases occur through spontaneous mutation with no inheritance of the gene.
Severity of the disorder can be classified as mild, moderate, or severe with differing symptoms. Symptoms of hemophilia include pain, bruising, spontaneous bleeding, bleeding into muscles and joints with associated pain and swelling, blood in urine or stool, and prolonged bleeding from minor cuts or abrasions. People with mild hemophilia are most likely to experience problems due to surgical procedures or major injuries, whereas people with severe hemophilia may experience spontaneous internal bleeding into muscles and joints.
For some cases of hemophilia, treatment consists of regular injections of the missing clotting factor. Mild cases of hemophilia may require injections only when bleeding occurs. The clotting factor either comes from human plasma or is made synthetically. Because so many donors are required to process one dose of factor, transmission of viruses from donor to recipient was a significant problem until the early 1990s. The risk involved in contracting viruses through human clotting factor has been drastically reduced in recent years, practically eliminating the risk for contracting human immunodeficiency virus (HIV) and hepatitis from clotting factor derived from human plasma.
Psychological functioning of children with hemophilia has been found to be similar to children with other chronic illnesses, with a display of more internalizing and externalizing behavioral disorders. However, there are certain aspects of hemophilia that are quite different from other illnesses. For instance, psychological difficulties may arise from the restrictions that people with hemophilia may have to place on their lifestyle. In particular, people with hemophilia have limitations and require close monitoring with regard to physical activity. Participation in contact or high impact sports can potentially be very dangerous for a child with hemophilia, owing to the likelihood of joint and muscle bleeds.
Children may become frustrated and bitter with the limitations of hemophilia. Children may have to repeatedly explain to other children why they cannot be involved in activities. People with more severe cases of hemophilia have greater limitations and can often experience more loneliness. Education of the family and friends of those with hemophilia can help boost the self-esteem of those suffering from hemophilia by creating a greater understanding of the illness. Children can also be helped if alternative activities are provided for them. As children enter into adolescence, they face not only the same psychological issues but also possible physical changes as a result of the bleeding. Those with hemophilia may have to deal with medical issues before they are developmentally ready and in some cases before they can adequately care for their illness. Fortunately, treatment centers have began to address these issues by creating a multidisciplinary approach that stresses education, proper medical care, and adjustment to living with a chronic illness.
- Canclini, M., Saviolo-Negrin, N., Zanon, E., Bertoletti, R., Girolami, A., & Pagnan, A. (2003). Psychological aspects and coping in haemophilic patients: A case-control study. Haemophilia, 9, 619–624.
- National Hemophilia F (n.d.). Information center: Types of bleeding disorders. Retrieved from http://www.hemophilia.org/bdi/bdi_types1.htm
- Thomas, , & Gaslin, T. (2001). “Camping up” self-esteem in children with hemophilia. Issues in Comprehensive Pediatric Nursing, 24, 253–263.
- World Federation of Hemophilia. (2002). Frequently asked questions. Retrieved from http://www.wfh.org/ShowDoc.asp?Rubrique=28&Document=42