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An inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhages, spontaneous or traumatic, because of a defect in the blood coagulating mechanism. [hemo- + G. philos, fond]
- h. A [MIM*306700-various] h. due to deficiency of factor VIII; an X-linked recessive condition, occurring almost exclusively in human males and also affecting several breeds of dogs, characterized by prolonged clotting time, decreased formation of thromboplastin, and diminished conversion of prothrombin. SYN: classic h..
- h. B [MIM*306900-various] a clotting disorder resembling h. A, caused by hereditary deficiency of factor IX; also seen as an X-linked recessive condition in the Cairn terrier breed of dogs. SYN: Christmas disease.
- h. C h. due to deficiency of factor XI; clinically resembles h. A and B but is transmitted as an autosomal dominant inheritance; occurs primarily in persons of Jewish ancestry.
- classic h. SYN: h. A.
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he·mo·phil·ia or chiefly Brit hae·mo·phil·ia .hē-mə-'fil-ē-ə n a sex-linked hereditary blood defect that occurs almost exclusively in males and is characterized by delayed clotting of the blood and consequent difficulty in controlling hemorrhage even after minor injuries compare CHRISTMAS DISEASE, HEMORRHAGIC DIATHESIS
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he·mo·phil·ia (he″mo-filґe-ə) [hemo- + -philia] a hemorrhagic diathesis occurring in two main forms, designated hemophilia A and hemophilia B. Both are determined by a mutant gene near the telomere of the long arm of the X chromosome, but at different loci, and are characterized by subcutaneous and intramuscular hemorrhages; bleeding from the mouth, gums, lips, and tongue; hematuria; and hemarthroses.Medical dictionary. 2011.