Hemophilia : Definition, Hemophilia A, Hemophilia B, Pathogenesis, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

Hemophilia : Definition, Hemophilia A, Hemophilia B, Pathogenesis, Treatment And MCQs for NEET, GPAT, CSIR NET JRF

“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).

Hemophilia: Types, Definition, Genetics, Treatment, Disability

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  • 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 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.


1.] Hemophilia is caused by ?

a. Bacteria


c. Genetic mutation

d. Cause unknown

2.] This is a complication of hemophilia ?

a. Bleeding in the head

b. Joint swelling

c. Death

d. All of the above

3.] Hemophilia is a result of lack of ?

a. STH

b. ADH

c. AHF


4.] Hemophilia is ?

a. X – linked

b. Y – linked

c. Z – linked

d. Autosomal

5.] This lack in patient with hemophilic – A ?

a. X – chromosome

b. Calcium

c. Antihemophilic factor

d. Plasma thromboplastin

6.] This is ineffective against antibiotics ?

a. Bacterial infected gonorrhea

b. Bacterial infected wound

c. Hemophilia

d. Bacterial infected throat

7.] Only men can get hemophilia ?

a. True

b. False

8.] What is the main symptom of hemophilia ?


b. Headache

c. Fatigue

d. Muscle pain

9.] Another name for hemophilia is Von Willebrand disease ?

a. True

b. False

10.] What is the treatment for hemophilia ?

a. Surgery

b. Gene therapy

c. Diet

d. Replacing the clotting factor



1.] (c) Genetic mutation

2.] (d)

3.] (c) AHF

4.] (a) X – Linked

5.] (c) Antihemophilic factor

6.] (c) Hemophilia

7.] (b)

8.] (a) Bleeding

9.] (b) False

10.] (d) Replacing the clotting factor


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1.] Textbook of Pathology By Harsh Mohan; 7th edition; Page no.313 – 314.

2.] Robbin’s Basic Pathology; 5th edition; Page no.622 – 623.

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