Information on the following diseases can be found in the Related Disorders section of this report:

• Factor IX Deficiency
• Factor XIII Deficiency

Usually no symptoms are present or obvious. However, when blood from a patient is subjected to a partial thromboplastin time test (PTT), a test measuring clotting time, it takes an abnormally long time for the blood to clot. Serum prothrombin time, another test of blood clotting, is also abnormally long. The blood level of Hageman Factor (Factor XII) tends to vary greatly.

It is important to note that on rare occasions Hageman Factor Deficiency may cause blood clots (thrombi) at an early age. Blood clots can have serious consequences. If a clot interrupts blood supply to the heart (myocardial infarction), the heart muscle itself may be damaged. Another reported result of Hageman Factor Deficiency is inflammation of the vein associated with a blood clot (thrombophlebitis).
.

Hageman Factor Deficiency is transmitted as an autosomal recessive disorder. The defective gene has been traced to Gene Map Locus 5q33-qter. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual. Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. Each chromosome has a short arm designated as p and a long arm identified by the letter q. Chromosomes are further subdivided into bands that are numbered. For example, chromosome 11p15.4 refers to band 15.4 on the short arm of chromosome 11.

Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal (for that particular trait).) The exact mechanism of inheritance is still being investigated. The risk is the same for each pregnancy.
.

Hageman Factor Deficiency affects persons of Asian descent more often than those of European descent. Males and females are affected in equal numbers. In about 10% of cases, the parents of patients with this disorder are closely related.
.

Symptoms of the following disorders can be similar to those of Hageman Factor Deficiency. Comparisons may be useful for a differential diagnosis:

Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A, although it occurs only one-fifth as often as Hemophilia. Factor IX is a component of the blood clotting substance, thromboplastin; it is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity and occurs most often in males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. (For more information on this disorder, choose "Factor IX" as your search term in the Rare Disease Database.)

Factor XIII Deficiency is an extremely rare genetic bleeding disorder. It is characterized by slow, oozing internal bleeding occurs several days after mild or severe injury. Poor wound healing and excessive bleeding from wounds are less common symptoms. About 100 cases of Factor XIII Deficiency have been described in the medical literature. Males and females are affected equally. With treatment, patients with this disorder can expect to live a normal life span. Without treatment, however, intracranial bleeding may eventually be life threatening. (For more information on this disorder, choose "Factor XIII" as your search term in the Rare Disease Database.)

Diagnosis
Hageman Factor Deficiency can be diagnosed by testing the blood of a person suspected to have the disorder with blood from a person known to have it. If the suspected blood does not correct the deficiency in the deficient blood, we know it is deficient as well. Treatment for this disorder is usually not necessary since the bleeding is only mild.
.

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 234000; Last Update: 6/3/2002.

TEXTBOOKS
Hoffman R, et al., eds. Hematology Basic Principles and Practice, 2nd ed. New York, NY: Churchill-Livingstone, Inc; 1995:1581-83, 1699.

Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:988.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:904-05.

REVIEW ARTICLES
Sugi T, Makino T. Autoantibodies to contact proteins in patients with recurrent pregnancy losses. J Reprod Immunol. 2002;53:269-77.

Baker WF Jr, Bick RL. Treatment of hereditary and acquired thrombophilic disorders. Semin Thromb Hemost. 1999;25:387-406.

JOURNAL ARTICLES
Jones DW, Gallimore MJ, Winter M. Recurerent abortion-antibodies to factor XII or a decrease in factor XII levels? Fertil Steril. 2001;76:1288-89.

Ogasawara MS, Iinuma Y, Aoki K, et al. Low-dose aspirin is effective for treatment of recurrent miscarriage in patients with decreased coagulation factor XII. Fertil Steril. 2001;76:203-04.

Matsuura T, Kobayashi T, Asahina T, et al. Is factor XII deficiency related to recurrent miscarriage. Semin Thromb Hemost. 2001;27:115-20.

Helft G, Le Feuvre C, Metzger JP, et al. Factor XII deficiency associated with coronary stent thrombosis. Am J Hematol. 2000;64:322-23.

Zeerleder S, Schloesser M, Redondo M, et al. Reevaluation of the incidence of thromboembolic complications in congenital Factor XII deficiency—a study on 73 subjects from 14 Swiss families. Thromb Haemost. 1999;82:1240-46.

FROM THE INTERNET
Elstrom R. MEDLINEplus. Medical Encyclopedia. Factor XII (Hageman factor) deficiency. Last Update: 10/14/01:2pp.
www.nlm.nih.gov/medlineplus/ency

Canadian Hemophilia Society. Other factor Deficiencies. Factor XII Deficiency. 2002:1p.
www.hemophilia.ca/english/other/other/factor12.html