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Topic: hematologic diseases (he)
Title: Carrier Testing.
Author: Babul-Hirji, R.; et al.
Source: Montreal, Quebec: Canadian Hemophilia Society. 2007. pp 43-56.
Availability: Available from Canadian Hemophilia Society. 625 President Kennedy, Suite 505, Montreal, Quebec, H3A 1K2. Phone: 1-800-668-2686. Email: chs@hemophilia.ca. Website: www .hemophilia.ca. Price: Available free of charge on website.
Abstract: This chapter on carrier testing is from a monograph that provides information for female carriers of hemophilia A and B, a type of genetic bleeding disorder traditionally experienced by males but passed on genetically by females. Recent understanding of this disorder shows that females can have the same problems as males with mild hemophilia, such as hemorrhaging after surgery or trauma. Women with clotting factor levels as high as 60 percent can have abnormal bleeding problems, including but not restricted to gynecological and obstetrical bleeding. This chapter explains why, when, and where to get tested for hemophilia; the tests that determine factor levels and carrier status; and some of the psychosocial issues related to testing and diagnosis. The authors address the controversy about whether to test in childhood, specifically before puberty, or to wait until the woman is an adult and can make the decision herself. The authors contend that earlier testing is better, both for medical reasons as well as to give the girl time to adjust to the diagnosis and educate herself about treatment and lifestyle options. Readers are encouraged, in all cases, to consult a hemophilia treatment team that can help them through the decision process as well as with follow-up counseling, as necessary.

Format: Book Chapter
Language: English.
Major Keywords: Hematologic Diseases. Hemophilia. Female. Patient Care Management. Genetic Screening. Diagnostic Tests. Patient Selection.
Minor Keywords: Symptoms. Complications. Delivery of Health Care. Reproductive System. Quality of Life. Menstruation. Self Care. Patient Education. Children. Psychosocial Factors.
Publication Number: HEBK10168
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