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hemophilia(hē'məfĭl`ēə, –fēl`yə), genetic disease in which the clotting ability of the blood is impaired and excessive bleeding results. The disease is transmitted through females but almost invariably affects male offspring only. A male born to a carrier mother has a 50% chance of having the disease. A hemophiliac cannot pass the disease to his sons, but all his daughters will be carriers. There are two diseases usually classified as hemophilia: hemophilia A (classical hemophilia, or Factor VIII deficiency) and hemophilia B (Christmas disease, or Factor IX deficiency).
Small wounds and punctures are usually not a problem for hemophiliacs and can be treated as in a nonhemophiliac. Uncontrolled internal bleeding, however, can result in pain and swelling and permanent damage, especially to joints and muscles. The symptoms often first appear in toddlers as their joints begin to bear weight.
Treatment and Screening
There is no cure for hemophilia, but treatment has been refined in recent years. In the 1960s, infusion of concentrated clotting factors replaced the whole-blood or plasma transfusions previously necessary, allowing most to administer preventive treatment at home. In the 1980s, however, many hemophiliacs became infected with hepatitishepatitis
, inflammation of the liver. There are many types of hepatitis. Causes include viruses, toxic chemicals, alcohol consumption, parasites and bacteria, and certain drugs.
..... Click the link for more information. or HIVHIV,
human immunodeficiency virus, either of two closely related retroviruses that invade T-helper lymphocytes and are responsible for AIDS. There are two types of HIV: HIV-1 and HIV-2. HIV-1 is responsible for the vast majority of AIDS in the United States.
..... Click the link for more information. (the AIDS virus) that was present in contaminated concentrated clotting factor. Blood donors are now screened, and commercial products are now heat-treated to kill the viruses. Genetic testinggenetic testing,
medical screening for genetic disorders, by examining either a person's DNA directly or a person's biochemistry or chromosomes for indirect evidence. Testing may be done to identify a genetic disorder a person has, whether the disorder is already evident or not,
..... Click the link for more information. can identify carriers of hemophilia, and the status of fetuses can be now be ascertained early in pregnancy. Treatments under study include gene therapygene therapy,
the use of genes and the techniques of genetic engineering in the treatment of a genetic disorder or chronic disease. There are many techniques of gene therapy, all of them still in experimental stages.
..... Click the link for more information. by insertion of healthy factor VIII or IX genes and fetal tissue implantsfetal tissue implant
or fetal cell therapy,
implantation of tissue from a fetus into a patient. In experimental procedures, fetal brain tissue has been implanted in the brains of patients with Parkinson's disease so that the fetal tissue will supply chemicals lacking
..... Click the link for more information. .
Examples of the transmission of hemophilia have been found in several royal families. The family of Queen VictoriaVictoria
(Alexandrina Victoria) , 1819–1901, queen of Great Britain and Ireland (1837–1901) and empress of India (1876–1901). She was the daughter of Edward, duke of Kent (fourth son of George III), and Princess Mary Louise Victoria of Saxe-Coburg-Saalfeld.
..... Click the link for more information. of England and, later, that of her granddaughter the Czarina Alexandra FeodorovnaAlexandra Feodorovna
, 1872–1918, last Russian czarina, consort of Nicholas II; she was a Hessian princess and a granddaughter of Queen Victoria. Neurotic and superstitious, she was easily dominated by Rasputin, who seemingly was able to check the hemophilia of her son.
..... Click the link for more information. were affected. The apparent ability of RasputinRasputin, Grigori Yefimovich
, 1869–1916, Russian holy man and courtier, a notorious figure at the court of Czar Nicholas II. He was a semiliterate peasant and debauchee who preached and practiced a doctrine of salvation that mixed religious fervor with sexual indulgence.
..... Click the link for more information. to check the hemophilia of the czarina's son was the basis of his hold over her and the czar. The family of Alfonso XIIIAlfonso XIII,
1886–1941, king of Spain (1886–1931), posthumous son and successor of Alfonso XII. His mother, Maria Christina (1858–1929), was regent until 1902.
..... Click the link for more information. of Spain, who married another granddaughter of Victoria, was also affected.
See S. Pemberton, The Bleeding Disease: Hemophilia and the Unintended Consequences of Medical Progress (2011).
a hereditary disease manifested by increased bleeding. The inheritance of hemophilia is associated with a disorder of the genes of the female X chromosome, which determine the formation of factor VIII (antihemophilic globulin) and factor IX (Christmas). Women are only the carriers of hemophilia, and they transmit the disease to some of their sons. However, a few cases of hemophilia have occurred in women born to a mother-carrier and a hemophiliac father. An insufficiency of factor VIII in the blood causes the development of hemophilia A (80 to 90 percent of the patients). If there is a deficiency of factor IX, hemophilia B arises (10 to 15 percent of the patients). Hemophilia C is caused by a deficiency of factor XI and occurs in only 5 percent of the cases. This form of the disease also occurs in women.
Bleeding in cases of hemophilia is manifested from early childhood, but it becomes less pronounced with age. Even slight bruises cause extensive hemorrhages, both subcutaneous and intramuscular. Repeated hemorrhages in the joints result in serious changes in them that are characteristic of hemophilia (hemarthrosis and its residual effects). Cuts and tooth extraction are accompanied by life-threatening bleeding, and they may promote the development of anemia. Bleeding sometimes does not begin until hours or even days after an injury or surgical operation. The main diagnostic signs of hemophilia are prolonged blood coagulation time and deficiency of antihemophilic globulin in the plasma (0.02-0.03 percent in healthy persons). A mixture of blood from a known hemophiliac and a person suspected of having the disease is also tested for coagulability. Treatment for bleeding includes transfusion of blood and plasma. (Blood and plasma stored for only a few hours are used for hemophilia A, or blood is transfused directly from a donor to the patient.) General action hemostatic agents, antihemophilic globulin (AHG), and dried fresh plasma are also used, and bleeding may be arrested locally. Preventive measures include avoiding surgery, which should be undertaken only when it is absolutely indicated. If surgery (including the extraction of teeth) is needed, the patients must be hospitalized, if possible in a specialized institution. Hemophiliacs must be protected against injury. Children suffering from hemophilia should be kept under observation in specialized clinics.
REFERENCESKassirskii, I. A., and G. A. Alekseev. Klinicheskaia gematologiia, 4th ed. Moscow, 1970.
Grozdov, D. M., and M. D. Patsiora. Khirurgiia zabolevanii sistemy krovi. Moscow, 1962.
Stefanini, M., and W. Dameshek. The Hemorrhagic Disorders. New York-London, 1962. (Bibliography.)
A. M. POLIANSKAIA