Hemophilia: Causes, Issues and Treatment
Author: Thomas C. Weiss : Contact: Disabled World (www.disabled-world.com)
Published: 2014-11-14 : (Rev. 2020-11-24)
Synopsis and Key Points:
Symptoms of hemophilia range from increased bleeding after injury, trauma, or surgery to sudden bleeding with no apparent cause.
Men who have hemophilia do not pass the disease to their sons because boys inherit only a Y chromosome from their father.
Men; however, do pass their X chromosome and therefore a defective gene to each of their daughters, so each of their daughters becomes a carrier of the disease.
Haemophilia (spelled hemophilia in North America), is a group of hereditary genetic disorders that impair the body's ability to control blood clotting, which is used to stop bleeding when a blood vessel is broken. The bleeding occurs because part of the blood called, 'plasma,' has too little of a protein that helps blood to clot. Symptoms of hemophilia range from increased bleeding after injury, trauma, or surgery to sudden bleeding with no apparent cause. There are 2 types of hemophilia:
- Hemophilia A: Results from too little of a plasma protein called, 'factor VIII,' which helps blood to clot. The greater the deficiency a person has, the more severe their symptoms will be. In mild hemophilia, 5-40% of the average factor VIII level is present, while in moderate hemophilia, 1-5% of the average factor VIII level is present. In severe hemophilia, less than 1% of the average factor VIII level is present. The majority of those who have hemophilia A experience moderate to severe symptoms.
- Hemophilia B: Results from too little of a plasma protein called, 'factor IX,' which helps blood to clot. As with hemophilia A, hemophilia B may be mild, moderate, or severe. The greater the deficiency, the more severe the person's symptoms are likely to be.
If there is no family history of hemophilia, an infant would not be tested for it. If there is a family history of hemophilia; however, specific tests may be performed from an umbilical cord blood sample to find out if a newborn infant has hemophilia. If the parents so desire, testing can be performed before the child is born. For moderate to severe hemophilia, doctors and caregivers usually do not see any signs of the condition at birth, or even for a period of time afterward. Symptoms children may experience include the following:
- Frequent bumps and falls
- Heavy bleeding in a male baby after circumcision
- Excessive bruising or unusual bleeding during the teething process
- Bruised, swollen joints or muscles when the child is learning to walk
With mild hemophilia, a person may not experience any noticeable symptoms until they undergo a dental procedure, which might cause them to bleed heavily, or they may not have any unusual bleeding unless they are injured in an accident or have a surgical procedure.
Causes of Hemophilia
Hemophilia is a genetic disease that is linked to a defective gene on the X chromosome. Chromosomes come in pairs; women have 2 X chromosomes, while men have 1 X and 1 Y chromosome. A woman who has the defective gene is called a, 'carrier,' and carries the disease and may pass it to her children. In the majority of instances; however, the woman herself experiences no symptoms of hemophilia. When a woman who is a carrier has a son, her son receives 1 X chromosome from his mother, so he has a 50% chance of receiving the defective gene. Boys who receive the defective gene have hemophilia. When a woman who is a carrier has a daughter, her daughter has a 50% chance of receiving the defective gene and therefore becomes a carrier herself.
Men who have hemophilia do not pass the disease to their sons because boys inherit only a Y chromosome from their father. Men; however, do pass their X chromosome and therefore a defective gene to each of their daughters, so each of their daughters becomes a carrier of the disease. If the father has hemophilia and the mother is a carrier, there is a chance their daughter will have hemophilia.
Approximately 70% of those who have hemophilia can trace hemophilia back through their family for multiple generations. In around 30% of newly diagnosed infants with hemophilia, no other family member is known to have had the disease. In these instances, a mutation or change has happened in 1 of the genes that tells the person's body how to make factor VIII or factor IX. From the time of the mutation, the person affected may transmit the defective gene to his or her children.
Issues Caused by Hemophilia
Internal bleeding resulting from hemophilia may lead to a number of health issues. The health issues people with internal bleeding from hemophilia may experience include:
Blood in Urine:
Blood in a person's urine might happen occasionally due to bleeding within the person's kidneys.
Bleeding in a person's brain may cause permanent brain damage and disability, or even death. While usually caused by trauma, in very severe instances of hemophilia these areas might bleed without known injury.
Issues with Breathing:
Breathing issues may happen as a result of bleeding in the person's throat. If this is not treated quickly, bleeding in the person's throat may interfere with their breathing, so much so that a person might need to be placed on a ventilator until the bleeding stops and the swelling goes down.
People with severe hemophilia may experience spontaneous bleeding in their joints. People with less severe hemophilia may have bleeding in a joint if they are injured or fall. If joint bleeding is not quickly and appropriately treated, joint deformity can occur. Bleeding in a joint can cause scarring in the joint. With repeated bleeds, the person's joint might lose mobility and become susceptible to additional bleeding. The ankle, knee and elbow joints are the joints most commonly affected. Bleeding into the muscles of a person's legs can also be severely disabling.
The best way to treat hemophilia is to replace the missing blood clotting factor so the person's blood may clot appropriately. Doing so is achieved by injecting commercially prepared clotting factor concentrates into a person's vein. There are 2 main types of clotting factor concentrates available:
- Plasma-Derived Factor Concentrates
- Recombinant Factor Concentrates
Plasma-Derived Factor Concentrates
'Plasma,' is the liquid part of a person's blood. Plasma is pale yellow or straw colored and contains proteins such as albumin, antibodies and clotting factors. Several factor concentrates that are made from human plasma proteins are available. All blood or parts of blood, such as plasma, are routinely tested for viruses. The clotting proteins are separated from other parts of the plasma; purified, and then made into a freeze-dried product. The product is tested and treated to kill any potential viruses prior to being packaged for use.
Recombinant Factor Concentrates
Until the year 1992, all factor replacement products were made from human plasma. In 1992, the United States Food and Drug Administration (FDA) approved recombinant factor VIII (8) concentrate, which does not come from human plasma. The concentrate is genetically engineered using DNA technology. Commercially prepared factor concentrates are treated to remove or inactivate blood-borne viruses. Recombinant factors VIII (8) and IX (9) are available that do not contain any plasma or albumin and cannot transmit any blood-borne viruses as well.
The products can be used as needed when a person is bleeding, or they can be used on a consistent basis to prevent bleeds from happening. People with hemophilia and their family members can learn how to give their own clotting factor at home today. Giving factor at home means that bleeds can be treated more rapidly, resulting in less serious bleeding with fewer side-effects. Additional treatment products include:
Desmopressin Acetate (DDAVP):
DDAVP is a chemical that is similar to a hormone that occurs naturally in a person's body. It releases factor VIII (8) from where it is stored in the person's body tissues. For people with mild and in some instances moderate hemophilia, DDAVP can work to increase their own factor VIII (8) levels so they do not have to use clotting factor. The medicine may be administered through a person's vein, or through a nasal spray.
Epsilon Amino Caproic Acid (Amicar):
Amicar is a chemical that may be administered in a person's vein or by mouth, such as through a pill or liquid. It prevents clots from breaking down and results in a firmer clot. Amicar is often times used for bleeding in a person's mouth, or after a tooth has been removed, because it blocks an enzyme in the person's saliva that breaks down clots.
Cryoprecipitate is a substance that comes from thawing fresh frozen plasma. It is rich in factor VIII (8) and was used to control serious bleeding in the past. Due to the fact that there is no method to kill viruses such as hepatitis and HIV in cryoprecipitate, it is no longer used as the current standard of treatment in America. It is; however, still used in the majority of developing nations.
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