Hemophilia: Causes, Symptoms & Diagnosis

by | Apr 17, 2019 |

World Hemophilia Day is held annually on April 17th to increase the awareness of haemophilia and other bleeding disorders.

Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally. People suffering from hemophilia have insufficient blood clotting factor (factor VIII or factor IX) in their body. Based on the amount of clotting factors, hemophilia can be mild, moderate, or severe. Haemophilia can be life-threatening if bleeding occurs within vital organs. There are three types of haemophilia:

Hemophilia A is a most common type of hemophilia in which the person does not have enough clotting factor VIII.

Hemophilia B is less common in which the person does not have enough clotting factor IX.

Hemophilia C is a rare form in which the person does not have enough clotting factor XI.

Causes

It is caused by mutation of genes which are located on the X chromosome. When one of the clotting factor genes on the X chromosome gets defected, then blood doesn’t clot normally. Haemophilia occurs mostly in male than female because of lack of X chromosome, as males have XY chromosome and females have XX chromosomes.

Symptoms

Symptoms of haemophilia depend upon level of insufficient clotting factor in blood. The major symptoms are excessive bleeding and easy bruising. Bleeding can occur externally or internally.

External bleeding: is easy to notice. This includes bleeding in the mouth, heavy bleeding from a minor cut, nosebleeds.

Internal bleeding: is harder to identify if you don’t know the signs. This includes blood in urine, pain in joints, bleeding in the brain after injury, blood in the stool, large bruises (from bleeding into the large muscles of the body), heavy menstrual periods, menorrhagia.

Diagnosis

Hemophilia can be detected through blood test including complete blood count (CBC), prothrombin time (PTT), activated partial thromboplastin time (PTT), and tests of blood clotting factors (VIII and IX). Blood tests help to identify how long it takes for blood to clot, the severity, and which clotting factors is missing. Prenatal diagnosis can also be done at 9 to 11 weeks by chorionic villus sampling (CVS).

Treatment

Hemophilia can be treated with replacement therapy in which missing or low clotting factors (VIII and IX) are slowly injected into a vein. This concentrates can be made from human blood or can be produced synthetically. Synthetically produced factors are known as recombinant clotting factors which are now considered as the treatment of choice as it helps to reduce transmitting infections. Physical therapy may be used to reduce pain and swelling in an affected joint.


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