Haemophilia B- A coagulation disorder

Abstract

Haemophilia is a group of inherited blood disorders in which blood does not clot properly. Bleeding disorders are due to defect in blood vessels, the coagulation mechanism or the blood platelets. When the coagulation factors are deficient, the blood does not clot properly and bleeding continues. Haemophilia is a X-linked recessive disorder that affects males, while the females are protected by normal gene on X-chromosome. Haemophilia-A is the most common genetic defect due to deficiency of Factor VIII while Haemophilia-B is the second most common genetic defect due to deficiency of Factor IX also called as Christmas disease.The present case report is of a 18-year-old male boy admitted in emergency wing of Government Medical College and Hospital, Jammu, who developed iliopsoas haematoma which after complete investigations revealed deficiency of clotting Factor IX.A report of presentation of a case of haemophilia-B.The present case report was done to demonstrate the sign and symptoms of haemophilia-B, complete haematological, bleeding and clotting test done for diagnosis and its treatment.The case of haemophilia-B presented with sudden inability to walk demonstrating right iliopsoas haematoma on ultrasonography. The patient was anaemic with haemoglobin – 7 gm%, TLC – 7000 mm and platelets 2.5 lakh/μl. The prothrombin time was decreased (10 seconds), activated partial thromboplastin time was increased (45 seconds), Factor VIII levels were within norrmal range, while Factor IX was decreased. Finally, a diagnosis of haemophilia-B was made.