What is Hemophilia ?
Causes of Hemophilia ?
Hemophilia is caused by defect or mutation in genes that determines how the body makes blood clotting factor VIII (8) and IX (9).The process of blood clotting involves a series of complex mechanisms, usually involving 13 different proteins classically termed factors I through XIII and written with Roman numerals.The protein involved with hemophilia A is factor VIII (factor 8) and with hemophilia B is factor IX (factor 9).These genes are located on the X chromosomes.
Female have two X chromosomes and Male have one X and one Y chromosome.Because Only X chromosome carries the genes related to clotting factor if man has a hemophilia gene(defected gene) on his X chromosome will have Hemophilia .As females have Two X chromosomes when a female has a hemophilia gene only on one of her X chromosome she is a Hemophilia carrier and can pass the genes to her children.If gene that code clotting factor 8 or 9 is defected on one x chromosome then it is compensated by the other gene present on second x chromosome in female .Gene present on second X chromosome will code for factor 8 or 9 which help in clotting but this is not the case in males if gene present on X chromes is defected there is no alternative for it to produce clotting factors that's why male have much higher chances of hemophilia.
Below are two examples of how the hemophilia gene is inherited.
Inheritance Pattern for Hemophilia—Example 1
Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia.
Inheritance Pattern for Hemophilia—Example 2
Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.
What are the signs and symptoms of hemophilia?
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.The extent of bleeding depends on how severe the hemophilia is.
The degree of symptoms depends upon the levels of the affected clotting factor.
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
Signs of external bleeding may include:
Signs of internal bleeding may include:
- Hemophilia is a bleeding disorder in which blood doesn't clot normally.
- Hemophilia is inherited from one generation to other usually.
- The two main types of hemophilia are A and B.
- Hemophilia A-Patient Missing or have low levels of clotting factor VIII (8)
- Hemophilia B-Patient Missing or have low levels of clotting factor IX (9)
- Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood.
- Treatment of Haemophilia involves coagulation factor replacement therapy.
- Haemophilia is more likely to occur in males than females.
- Hemophilia is the most common X-linked genetic disease.
- Hemophilia has been called the Royal Disease because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Her daughters passed the mutated gene on to members of the royal families of Germany, Spain, and Russia.
- Hemophilia is a group of inherited ,hereditary bleeding disorders that impairs or affects body's ability to control and stop blood clotting.Haemophilia results in abnormal bleeding and poor blood clotting.You may bleed for a longer time than others after an injury.This bleeding can damage your organs and tissues and may be life threatening.
TYPES OF Hemophilia ?
There are mainly two types of Hemophilia Hemophilia A and Hemophilia B
Other Names for Hemophilia
Hemophilia A
Classic hemophilia
Factor VIII deficiency
Hemophilia B
Christmas disease
Factor IX deficiency
There are mainly two types of Hemophilia Hemophilia A and Hemophilia B
Other Names for Hemophilia
Hemophilia A
Classic hemophilia
Factor VIII deficiency
Hemophilia B
Christmas disease
Factor IX deficiency
Hemophilia is caused by defect or mutation in genes that determines how the body makes blood clotting factor VIII (8) and IX (9).The process of blood clotting involves a series of complex mechanisms, usually involving 13 different proteins classically termed factors I through XIII and written with Roman numerals.The protein involved with hemophilia A is factor VIII (factor 8) and with hemophilia B is factor IX (factor 9).These genes are located on the X chromosomes.
Female have two X chromosomes and Male have one X and one Y chromosome.Because Only X chromosome carries the genes related to clotting factor if man has a hemophilia gene(defected gene) on his X chromosome will have Hemophilia .As females have Two X chromosomes when a female has a hemophilia gene only on one of her X chromosome she is a Hemophilia carrier and can pass the genes to her children.If gene that code clotting factor 8 or 9 is defected on one x chromosome then it is compensated by the other gene present on second x chromosome in female .Gene present on second X chromosome will code for factor 8 or 9 which help in clotting but this is not the case in males if gene present on X chromes is defected there is no alternative for it to produce clotting factors that's why male have much higher chances of hemophilia.
Below are two examples of how the hemophilia gene is inherited.
Inheritance Pattern for Hemophilia—Example 1
Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia.
Inheritance Pattern for Hemophilia—Example 2
Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.
What are the signs and symptoms of hemophilia?
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.The extent of bleeding depends on how severe the hemophilia is.
The degree of symptoms depends upon the levels of the affected clotting factor.
- Severe disease is defined as <1% factor activity,
- Moderate disease is defined as 1% to 5% factor activity and
- Mild disease is defined as greater than 5% factor activity.
- 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 (external bleeding) or inside the body (internal bleeding).
Signs of external bleeding may include:
- Bleeding in the 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 (from bleeding in the kidneys or bladder)
- 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 Brain
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury.
Bleeding in the JointsInternal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury.
The signs and symptoms of bleeding in the brain 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
- Bleeding 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. The joint then becomes swollen, hot to touch, and painful to bend.
- Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.
Diagnosis of Hemophilia ?
Most of the patient have family history of Hemophilia and some may not have because it has occurred because of spontaneous mutation in genes that codes for factor eight or nine.If there is no known family history of hemophilia, a series of blood tests can identify which part or protein factor of the blood clotting mechanism is defective if an individual has abnormal bleeding episodes.The platelet (a blood particle essential for the clotting process) count should be measured as well as two indices of blood clotting, the prothrombin time (PT) and activated partial thromboplastin time (aPTT).
Treatment of hemophilia ?
Treatment With Replacement Therapy
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.
Prophylactic therapy-Replacement therapy done on a regular basis to prevent bleeding is called preventive or prophylactic therapy.
Demand therapy-Replacement therapy of the deficient clotting factor may be carried out on an as-needed basis this use of the treatment, on an as-needed basis, is called demand therapy.
Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.
Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer.
DDAVP usually is given by injection or as nasal spray.
Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid and epsilon aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down.
Treatment of a Specific Bleeding Site
Pain medicines, steroids, and physical therapy may be used to reduce pain and swelling in an affected joint.
Can hemophilia be prevented?
Hemophilia is a genetic (inherited) disease and cannot be prevented. Genetic counseling, identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with hemophilia.
Treatment With Replacement Therapy
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.
Prophylactic therapy-Replacement therapy done on a regular basis to prevent bleeding is called preventive or prophylactic therapy.
Demand therapy-Replacement therapy of the deficient clotting factor may be carried out on an as-needed basis this use of the treatment, on an as-needed basis, is called demand therapy.
Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.
Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer.
DDAVP usually is given by injection or as nasal spray.
Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid and epsilon aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down.
Treatment of a Specific Bleeding Site
Pain medicines, steroids, and physical therapy may be used to reduce pain and swelling in an affected joint.
Can hemophilia be prevented?
Hemophilia is a genetic (inherited) disease and cannot be prevented. Genetic counseling, identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with hemophilia.