Factor VII Deficiency
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NORD is very grateful to Helge Hartung, MD, Attending Physician, Children's Hospital of Philadelphia, Division of Hematology, for assistance in the preparation of this report.
Synonyms of Factor VII Deficiency
- Alexander's disease
- congenital factor VII deficiency
- inherited factor VII deficiency
- No subdivisions found.
Factor VII deficiency is a rare genetic bleeding disorder characterized by a deficiency or reduced activity of clotting factor VII. Clotting factors are specialized proteins that are essential for the blood to clot normally. Individuals with factor VII deficiency can experience prolonged, uncontrolled bleeding episodes. The severity of factor VII deficiency can vary greatly from one person to another. Some individuals may have no symptoms (asymptomatic); others may develop mild, moderate or potentially severe, life-threatening complications as early as in infancy. Factor VII deficiency is caused by mutations of the F7 gene and is inherited as an autosomal recessive disorder.
Factor VII deficiency was first described in the medical literature by Dr. Alexander, et al. in 1951 and was referred to as prothrombin conversion accelerator deficiency. The disorder has also been known as Alexander's disease. In extremely rare instances, factor VII deficiency can be acquired during life; this report deals with the genetic form, which is present at birth (although symptoms may develop later).
Organizations related to Factor VII Deficiency
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