Hemophilia: Causes, Symptoms, Treatment, Diagnosis

What is Hemophilia?

Hemophilia is an inherited pathological condition in which there is an abnormality in the blood’s ability to clot adequately. Hemophilia is normally caused as a result of some abnormality in the proteins which cause the blood to clot. These proteins are called as clotting factors. Since the blood is not able to clot easily in Hemophilia even a small cut or a bruise will cause bleeding that will be hard to stop. The clotting factors or proteins work in tandem with the platelets to allow the blood to clot. It is estimated that about one in every 10,000 people born is born with Hemophilia.

People with Hemophilia not only bleed easily but may also suffer from internal bleeding as well and tend to have painful swollen joints due to bleeding within the joints. Hemophilia is a rare condition but it tends to have potentially serious life threatening complications. There are basically three types of Hemophilia namely A, B, and C of which Hemophilia A is the most common type and is caused by deficiency of factor VIII in the blood.

Hemophilia B is caused by deficiency in factor IX and Hemophilia C is caused by deficiency in factor XI is the much milder form of Hemophilia. People with Hemophilia C do not experience any spontaneous bleeding which is the case with the other two types of Hemophilia. Hemophilia does not have a cure as it is an inherited condition and the treatment is aimed at minimizing the symptoms and prevent any complications caused due to Hemophilia.

What is Hemophilia?

What Causes Hemophilia?

The clotting process starts as soon as there is an injury or wound in the body. This takes place with the platelets coming together at the wound site and forming a clot. Once this process is over then the clotting factors starts acting and makes a permanent clot till the wound heals. Hemophilia is caused when these clotting factors are not enough in the body resulting in the wound not being properly clotted and the bleeding continues.

As stated, Hemophilia is a genetic condition and an individual is born with it. This condition is caused by a defect in the genes which makes factors VIII, IX, and XI which is essential for clotting factors. It is an X-linked autosomal recessive trait. Since X-linked chromosomes are found in females hence females are called as the carrier of the defective gene. Males get this defective gene from their mothers meaning that the male which has inherited the gene from the mother will have Hemophilia.

Any female with the gene defect causing Hemophilia will have a 50% or more chances of passing this defective gene to her children. Females who have the defective gene are termed as carriers of Hemophilia meaning that the female herself will not have the disease condition but may very well pass on to her offspring later on. In cases where males have the defective gene in the X chromosome then they pass the gene on to their daughters making them a carrier of the defective gene causing Hemophilia.

On the other hand, males who have X chromosome and have a defective gene have every chance of passing these defective genes to their daughters who will then become carriers of this defective gene causing Hemophilia.

What are the Symptoms of Hemophilia?

How bad the symptoms of Hemophilia will be depends on the severity of the clotting factor deficiency. Individuals with mild cases of Hemophilia may only bleed after a trauma or an accident while people with severe deficiency of clotting factor may start bleeding spontaneously. In cases of spontaneous bleeding the individual may experience the following symptoms.

  • Hematuria
  • Blood in the stools
  • Spontaneous and easy bruising
  • Excessive bleeding even with small cuts or injuries
  • Bleeding from the gums
  • Frequent nosebleeds
  • Persistent joint pains and tightness
  • Irritability in cases of children with Hemophilia.

How is Hemophilia Diagnosed?

Blood test is the best way to diagnose Hemophilia. A small amount of blood is taken from the patient and sent for analysis to determine if there is a clotting factor deficiency. This test will confirm the diagnosis of Hemophilia and the blood test will also quantitate the clotting factor deficiency and help the physician determine the severity and formulate a treatment plan for Hemophilia.

How is Hemophilia Treated?

Hemophilia A which is the mild form of Hemophilia can be treated with injection of hormones which increase the clotting efficiency of the blood and helps in early blood clotting. This hormone is called desmopressin. In cases of Hemophilia B, the physician may recommend infusion of clotting factors from potential donors. For Hemophilia C which is the most severe form of Hemophilia, plasma infusion is recommended to try and prevent profuse bleeding, although this medication is very hard to find at this time in the United States. For cases where the joints get tight and are painful due to Hemophilia, physical therapy is recommended by the physician to cut down the damage caused by Hemophilia.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:May 11, 2017

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