Hemophilia


Hemophilia is due to deficiency of coagulation factors. : factors VIII or IX or XI.

Types of hemophilia

Type A ( classical X linked recessive) due to deficiency of factor VIII.
Type B (classical X linked recessive)( Christmas disease). Due to deficiency of factor IX.
Type C ( autosomal recessive) Rosenthal disease) due to deficiency of factor XI.
Von Willebrand disease is due to defective functioning of the VwF( Von Willebrand factor)
It is glycoprotein that enables platelet adhesion and serves as carrier protein for factor VIII. Types 1 and 2 are mild to moderate, the transmission is autosomal dominant. The type 3 is autosomal recessive and and bleeding can be severe in joint and muscle like hemophilia A.

Symptoms

Red discoloration due to superficial collection of blood, the bleeding in the muscles and the joints, spontaneous bleeding, prolonged bleeding on minor injuries and surgical procedures. The clinical presentation is proportional to the deficiency of the coagulation factors. They correspond to the haemorrhage in the joints ( hemarthrosis) or the muscles ( haematoma).

Detection

Normal prothrombin time and abnormal partial thromboplastin time points towards hemophilia.
Increased bleeding time and activated partial thromboplastin time and decreased factor VIII and VwF points to von Willebrand disease.

Treatment

The type of treatment varies on the type of the disease, the degree and the severity of the disease. The principal treatment is the replacement of the coagulation factors .
For hemophilia A treatment is factor VIII
Desmopressin DDAVP is a synthetic hormone useful in hemophilia.
For hemophilia B or Christmas disease the treatment is factor IX . Desmopressin is not effective.
Antifibrinolytics like tranexamic acid can be used.

Precautions

Protect yourself from injuries.
Do not take blood thinners tablets.
Keep your teeth clean.
To stop bleeding, apply pressure over the area , bind with clean cloth piece if required to increase pressure and elevate the limb to decrease the blood flow. After bleeding, drink plenty of water.

 

 

 

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.