Hemophilia: Causes, Types, Symptoms, And Treatment.

Hemophilia

Hemophilia is a rare condition in which the blood does not clot properly where it mostly affects men. It is a mostly inherited genetic disorder that impairs the body’s ability to form the clot of the blood where a process needed to stop bleeding which results in people bleeding for a long time after an injury, easy bruising, and an increased risk of bleeding inside joints along with the brain.

Those with mild cases of a person with hemophilia may have symptoms only after an accident or surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long-term headaches or decreased level of consciousness.

People who are having hemophilia produce lower amounts of factor VIII or factor IX than those without the condition which means that the person tends to bleed for a prolonged time after having an injury, and they are more susceptible to internal bleeding. The bleeding can be fatal if it occurs within a vital organ such as the heart, brain, etc.

Causes

In hemophilia, the blood did not clot as it should where it is normally an inherited disorder and the person is born with it. It occurs because of a defect in the clotting factor genes on the X chromosome.

It tends to occur in males as it passed from mother to son.

Male typically lack a second X chromosome so they are unable to make up for the defective gene where the females have a YY sex chromosome and the male have XY sex chromosomes. Females may be the carrier of it, but they are unlikely to have the disorder. In rare conditions, a girl with hemophilia has an abnormal gene on both of her X chromosomes. The disorder can also develop if the body forms antibodies to clotting factors in the blood that then stop the work of the clotting factor.

Types

There are several types of hemophilia where the following type is the most common:

1) Hemophilia A- This type is caused by a lack or decrease of the VIII clotting factor. It is also known as classic hemophilia.

2) Hemophilia B- This is caused by a lack or decrease of the IX clotting factor. It is also known as Christmas disease.

Sign And Symptoms

The common sign and symptoms of hemophilia include:

  • Bleeding into the joints can cause swelling and pain in the joints. It often affects the knees, elbows, and ankles.
  • Bleeding into the skin or muscles and soft tissue. It can cause a build-up in the blood in the area which is termed a hematoma.
  • Bleeding of the mouth and gums is hard to stop after losing a tooth.
  • Bleeding after circumcision. It is a surgery performed on male babies to remove the hood of skin, called the foreskin that covers the head of the penis.
  • Bleeding that occur having shots such as vaccinations.
  • Bleeding in the head of an infant after a complicated delivery.
  • Blood in the urine or in stool
  • Frequent nose bleed which is difficult to stop.

Treatment

Hemophilia is treated with a therapy called replacement therapy.

This involves giving or replacing the clotting factors that are too low in a patient who is affected with hemophilia.. Clotting factor treatment for the replacement therapy is derived from the human blood which is synthetically produced in the laboratory.

Synthetically produced factors are known as recombinant clotting factors.

Recombinnat clotting factors are now considered as the treatment of choice because they further reduce the risk of transmitting infections carried by the human blood.

Some patients will need regular replacement therapy to prevent the bleeding which is called prophylactic therapy. This is typically recommended to those people who have a severe form of hemophilia. Others receive demand therapy is a treatment that is given only after the bleeding begins which remains uncontrollable.

Complications from the treatment of hemophilia are possible such as viral infection from human clotting factors as well as developing antibodies to treatment.

Joints, muscles, and other body parts get affected if the treatment is delayed. Another treatment for a moderate form of hemophilia involves desmopressin, a man-made hormone that stimulates the release of factor VIII, and fibrinolytic medicines that prevent the breakdown of the clots.

Rixubis is a protein purified that is created with the recombinant DNA technology to treat the patient with hemophilia B. Rixubis is a lab-produced blood factor IX which aims to prevent and control the excessive bleeding by replacing the clotting factor or in low-level inpatient living with hemophilia.

In the future gene therapy may be available.

Last Updated on October 10, 2023 by anup