Hemophilia : A complication

Hemophilia is a disease in which blood doesn't thicken normally. A hemophilia carrier may bleed for a longer time than others after an injury. The patient may bleed inside the body, especially in the knees, ankles, and elbows. This bleeding can damage the organs and tissues and may be life threatening. Hemophilia usually is inherited. "Inherited” means that the disorder is passed from parents to children through genes. Patients born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets to help the blood clot. Platelets are small blood cell fragments that form in the bone marrow. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to close cuts and breaks on the vessels and stop bleeding.

There are two main types of hemophilia, A and B. If the patient is victim of hemophilia A, he/she is missing or has low levels of clotting factor VIII (8). Nearly 8 patients out of 10 who have hemophilia are victim of type A. If the patient has hemophilia B, he/she is missing or has low levels of clotting factor IX (9). Not often, hemophilia can be acquired. "Acquired” means the patients aren't born with the disorder, but they develop it during their lifetime. This can happen if the body forms antibodies (proteins) that attack the clotting factors in bloodstream. The antibodies can prevent the clotting factors from working.

This disease can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people, who have hemophilia A, face the severe form of the disorder. People who don't have hemophilia have a factor VIII activity of 100 percent. People who have severe hemophilia A have a factor VIII activity of less than 1 percent. Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.

 

Main Causes of Hemophilia

A deficiency in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes. Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors. A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a "hemophilia carrier” and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.

Hardly ever, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar the boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females. Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.

The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.

Excessive Bleeding

This kind of bleeding depends on how severe the hemophilia is. Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision. Bleeding can occur on the body's surface or inside the body.

Signs of external bleeding may include:

·               Bleeding in mouth from a cut or bite or from cutting or losing a tooth

·               Nosebleeds for no obvious reason

·               Heavy bleeding from a minor cut

·               Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

·               Blood in the urine

·               Blood in the stool (from bleeding in the intestines or stomach)

·               Large bruises (from bleeding into the large muscles of the body)

Bleeding in the Joints

Flow of blood in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury. At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. Then joint becomes swollen, hot to touch, and painful to bend. Inflammation continues as bleeding continues. Ultimately, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.

Bleeding in the Brain

Bleeding in brain is a serious complication of hemophilia. It can happen after a simple hit on the head or a more serious injury. The signs and symptoms of bleeding in brain may include:

·               Long-lasting, painful headaches or neck pain or stiffness

·               Repeated vomiting

·               Sleepiness or changes in behavior

·               Sudden weakness or clumsiness of the arms or legs or problems walking

·               Double vision

·               Convulsions or seizures