Hemophilia
● Hemophilia is a congenital disorder of coagulation. It is of three types Hemophila A, B and C
Hemophilia A
● Hemophilia A affects 1/10000 individuals. It occurs due to reduction in coagulation factor VIII
● Factor VIII is carried bound to von Willebrand factor
● Gene for Factor VIII is located on the X chromosome making hemophilia a sex linked disease.
● So all daughters of a hemophiliac have 50% chance of being a carried and all sons have 50% chance of having hemophilia.
● The severity does not vary in the family because the all members will have same
genetic variation.
Clinical Features
● Superficial bruising in babies at the age of 6 months (Haemarthrosis)
● Haemarthrosis is recurrent in severe cases especially in large joints.
● Begin spontaneous without apparent trauma and most commonly affect knees,
elbows, ankles and hips.
● Bleeing is felt as an abnormal sensation in joints (at least once or twice per week)
● Haemarthrosis leads to swollen and painful joints.
● Muscle hematoma may also be seen
● Patient with moderate hemophilia experience bleeding upon mild trauma
● It can lead to arthropathy (in knee and elbow) and Muscle atrophy
● Treated with factor VIII concentrate
Hemophilia B
● Also called as Christmas Disease
● Occurs due to aberration in factor IX gene (present on X chromosome)
● Clinically indistinguishable from Hemophilia A but it is less common
● Treated with factor IX concentrate
