HEMOPHILIAHEMOPHILIA

Hemophilia Hemophilia (heem-o-FILL-ee-ah)(heem-o-FILL-ee-ah) • Hereditary bleeding disorder resulting from a deficiency of specific Hereditary bleeding disorder resulting from a deficiency of specific

factors. factors. • If you have hemophilia, you may bleed for a longer time than others If you have hemophilia, you may bleed for a longer time than others

after an injury. People born with hemophilia have little to none of a after an injury. People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting. major role in blood clotting.

• When blood vessels are injured, clotting factors help the platelets When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with hemophilia need injections of a clotting place. Sometimes people with hemophilia need injections of a clotting factor or factors to stop bleeding.factor or factors to stop bleeding.

Main types of hemophiliaMain types of hemophilia

• Hemophilia A - Classic Hemophilia, Hemophilia A - Classic Hemophilia, Factor VIII deficiencyFactor VIII deficiency

• Hemophilia B -Hemophilia B -Christmas Disease, Christmas Disease, Factor IX deficiencyFactor IX deficiency

Major signs and symptomsMajor signs and symptoms• Excessive bleeding• Easy bruisingEasy bruising

Symptoms range from increased Symptoms range from increased bleeding after trauma, injury, or bleeding after trauma, injury, or surgery to sudden bleeding with no surgery to sudden bleeding with no apparent cause. apparent cause.

Bleeding in the joints Bleeding in the joints

Bleeding in the knees, or other joints is Bleeding in the knees, or other joints is another common form of internal bleeding another common form of internal bleeding in people with hemophilia. This can occur in people with hemophilia. This can occur without obvious injury . At first, this bleeding without obvious injury . At first, this bleeding causes tightness in the joint with no real causes tightness in the joint with no real pain or any visible signs of bleeding. The pain or any visible signs of bleeding. The joint then becomes swolen, hot to touch, joint then becomes swolen, hot to touch, and painful to bend.and painful to bend.

Swelling continues as bleeding continues Swelling continues as bleeding continues and eventually movement in the joint and eventually movement in the joint temporarily lost.temporarily lost.

GeneticGenetic• If you have inherited hemophilia, you’re born with If you have inherited hemophilia, you’re born with

the condition. It’s caused by a defect in one of the the condition. It’s caused by a defect in one of the genes that determine how the body makes blood genes that determine how the body makes blood clotting factors VIII or IX. These genes are located clotting factors VIII or IX. These genes are located on the X chromosomes . on the X chromosomes .

• Chromosomes come in pairs. Females have two X Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the chromosome. Only the X chromosome carries the genes related to clotting factors. genes related to clotting factors.

• A male who has the abnormal gene on his X A male who has the abnormal gene on his X chromosome will have hemophilia. A female must chromosome will have hemophilia. A female must have the abnormal gene on both of her X have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare. chromosomes to have hemophilia; this is very rare.

• A female is a “carrier” of hemophilia if she has the A female is a “carrier” of hemophilia if she has the abnormal gene on one of her X chromosomes. Even abnormal gene on one of her X chromosomes. Even though she doesn’t have the condition, she can though she doesn’t have the condition, she can pass the gene on to her children. pass the gene on to her children.

• Females who are carriers usually have Females who are carriers usually have enough clotting factors from their one enough clotting factors from their one normal X chromosome to prevent serious normal X chromosome to prevent serious bleeding problems. bleeding problems.

• Very rarely, a girl is born with hemophilia. Very rarely, a girl is born with hemophilia. This can happen if her father has This can happen if her father has hemophilia and her mother is a carrier. hemophilia and her mother is a carrier.

• Some males with the disorder are born to Some males with the disorder are born to mothers who aren’t carriers. In these mothers who aren’t carriers. In these cases, a mutation (random change) occurs cases, a mutation (random change) occurs in the gene as it is passed to the child.in the gene as it is passed to the child.

Hemophilia A & B are classified Hemophilia A & B are classified into:into:

• Mild HemophiliaMild Hemophilia

• Moderate Moderate HemophiliaHemophilia

• Severe HemophiliaSevere Hemophilia

• 5 – 30 % Normal 5 – 30 % Normal FactorFactor

• 1 – 5% Normal 1 – 5% Normal FactorFactor

• <1% Normal factor<1% Normal factor

OccurenceOccurence

• Hemophilia is quite rare, with only Hemophilia is quite rare, with only about 1 instance in every 10,000 about 1 instance in every 10,000 births (or 1 in 5,001 male births) for births (or 1 in 5,001 male births) for hemophilia A and 1 in 50,000 births hemophilia A and 1 in 50,000 births for hemophilia B. About 18,000 for hemophilia B. About 18,000 people in the United States have people in the United States have hemophilia. Each year in the US, hemophilia. Each year in the US, about 400 babies are born with the about 400 babies are born with the disorder. Hemophilia usually occurs disorder. Hemophilia usually occurs in males and less often in females. in males and less often in females.

MANAGMENT

General

hemophilia isn’t curable , but treatment can prevent crippling deformities and prolong life expectancy. Correct treatment quickly stops bleeding by increasing plasma levels of the deficient clotting factor. This helps to prevent disabling deformities due to repeated bleeding into muscles and joints .

General Nursing GuidelinesGeneral Nursing Guidelines

• Goal 1.Goal 1. Prevent Injury and Prevent Injury and Possible Possible bleedingbleeding

• Goal 2.Goal 2. Control Bleeding Control Bleeding EpisodesEpisodes

• Goal 3.Goal 3. Prevent joint Prevent joint degenerationdegeneration

• Goal 4.Goal 4. Encourage self careEncourage self care

Goal 1.Goal 1. Prevent Injury & Prevent Injury & Possible BleedingPossible Bleeding

• Provide safe Provide safe environmentenvironment

• Use soft bristle Use soft bristle toothbrush, NO toothbrush, NO razorsrazors

• Avoid IM and IV (if Avoid IM and IV (if so, apply direct so, apply direct pressure at least pressure at least 5mins)5mins)

• No Aspirin No Aspirin

Goal 2. Control Bleeding Goal 2. Control Bleeding EpisodesEpisodes

• Local measures: Local measures: apply direct apply direct pressure; elevate pressure; elevate or ice compressor ice compress

• Epistaxis sit up Epistaxis sit up lean forwardlean forward

Goal 3.Goal 3.Prevent joint Prevent joint degenerationdegeneration

• Immobilize joint Immobilize joint during acute during acute bleedingbleeding

• Progressive Progressive exerciseexercise

• Avoid prolong Avoid prolong immobility immobility

Goal 4.Goal 4. Encourage Self Encourage Self CareCare• Wear Medic Alert Wear Medic Alert

IDID• Caution against Caution against

overprotecting that overprotecting that will affect self will affect self esteem of childesteem of child

• Encourage regular Encourage regular treatment as a treatment as a child, like schoolingchild, like schooling

MERRY CHRISTMASMERRY CHRISTMAS & HAPPY NEW YEAR & HAPPY NEW YEAR

Thank you!!!Thank you!!!

Dave Jay Sibi. Manriquez RN.Dave Jay Sibi. Manriquez RN.

Depends on the type and severity of the hemophilia. Children with mild hemophilia may not have symptoms until they have excessive bleeding from dental procedure , an accident , or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious or hidden within the body .