Definition of Hemophilia A

In this article, we will discuss the Definition of Hemophilia A. So, let’s get started

Definition

It is a congenital single gene mutation (factor VIII and IX gene) disorder of coagulation resulting in deficiency of factor VIII (antihemophilic factor) resulting from gene mutation of factor VIII located on X-chromosome. It is most frequently encountered disorder of coagulation in clinical practice. It occurs in about 1 of 10,000 males. It is an X-linked disorder where the males are sufferers and females are the carriers (transmitter). About 2/3rd of all patients have positive family history; while in other 1/3rd mutation occurs de novo. A hemophilic person will have all his sons as normal, and all his daughters as carriers. A carrier woman has a 50% chance of having a carrier daughter or a hemophilic son in each pregnancy. Hemophilia ‘breeds true’ within a family thus, if one individual has severe hemophilia, all others affected will have a severe form of the disease. Female carriers of hemophilia nay also have reduced factor VIII levels. A reduced factor VIII level in a carrier will result in mild bleeding disorder, therefore, all known or suspected carriers of hemophilia should have their factor VIII level measured. Inhibitors to factor VIII will develop in about 25% patients with hemophilia A and inhibitors to factor IX will develop in <5% of patients with hemophilia B.