“Due to the qualitative or quantitative defect in single coagulation factor most of the plasma coagulation disorders occurs.”
1.] Two of the most common inherited disorders are the sex – (X) – linked disorder – classic hemophilia or hemophilia A (due to the inherited deficiency of factor VIII) and Christmas disease or hemophilia B (due to the inherited deficiency of factor IX).
The above image is taken for education purpose only from wecapable.com
HEMOPHILIA – A :-
- Hemophilia A is the most common hereditary disorder with serious bleeding.
- It is caused due to the reduction in the ability of factor VIII.
- This disorder is inherited as a sex – X – linked recessive trait, and therefore, manifests clinically in males, while females are usually the carriers.
- Hemophilia A is caused by quantitative reduction of factor – VIII in 90% of the cases, while in 10% of the cases have normal or increased level of factor VIII with reduced activity.
- Factor VIII is synthesized in hepatic parenchymal cell and regulates the activation of factor X in intrinsic coagulation pathway.
- Normal homeostasis requires 25% factor VIII activity.
- Occasional patients with 25% factor VIII level may develop bleeding, most symptomatic hemophilia patient have factor VIII level below 5%.
- It involves infusion of factor VIII, currently derived from human plasma.
- Symptomatic patients with bleeding episode are treated with factor VIII replacement therapy.
HEMOPHILIA B :-
- Hemophilia B is also known as Christmas disease named after the first patient diagnosed with this disorder.
- It is caused due to the inherited deficiency of factor IX.
- It is also an inherited X – linked recessive trait and may occur asymptotically or with associated hemorrhage.
- As with hemophilia A the partial thromboplastin time is prolonged, and bleeding time is normal.
- Diagnosis of this disease id possible only by the assay of factor level.
- Therapy in asymptomatic hemophilia B consist of infusion of either fresh frozen plasma or a plasma enriched with factor IX.
- The replacement therapy in factor IX deficiency may activate the coagulation system and causes thrombosis and embolism.
MULTIPLE CHOICE QUESTION :-
1.] Hemophilia is caused by ?
c. Genetic mutation
d. Cause unknown
2.] This is a complication of hemophilia ?
a. Bleeding in the head
b. Joint swelling
d. All of the above
3.] Hemophilia is a result of lack of ?
4.] Hemophilia is ?
a. X – linked
b. Y – linked
c. Z – linked
5.] This lack in patient with hemophilic – A ?
a. X – chromosome
c. Antihemophilic factor
d. Plasma thromboplastin
6.] This is ineffective against antibiotics ?
a. Bacterial infected gonorrhea
b. Bacterial infected wound
d. Bacterial infected throat
7.] Only men can get hemophilia ?
8.] What is the main symptom of hemophilia ?
d. Muscle pain
9.] Another name for hemophilia is Von Willebrand disease ?
10.] What is the treatment for hemophilia ?
b. Gene therapy
d. Replacing the clotting factor
1.] (c) Genetic mutation
3.] (c) AHF
4.] (a) X – Linked
5.] (c) Antihemophilic factor
6.] (c) Hemophilia
8.] (a) Bleeding
9.] (b) False
10.] (d) Replacing the clotting factor
1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.313 – 314.
2.] Robbin’s Basic Pathology; 5th edition; Page no.622 – 623.