HEMOPHILIA

hemophilia

 HEMOPHILIA

Hemophilia is a hereditary recessive disorder of coagulation characterized by a deficiency or malfunction of specific clotting factors. People with hemophilia are able to form a platelet plug but are unable to form a stable one. Clinical manifestations and complications of hemophilia are usually secondary to recurrent bleeding. Bleeding abnormalities that are associated with hemophilia are usually noticed when the child becomes active and learns to walk, but mild cases may go undetected until adulthood. Approximately, 40% of children have their bleeding during the first year of life, and by age 4, 90% have had episodes of persistent bleeding from minor injuries. Bleeding episodes seem to decrease at or after adolescence, which may be the decrease risk of trauma, as well as stabilization of disease process.

 

cloning of hemophiliac cells

TYPES

WHEN FATHER IS HEMOPHILIAC AND MOTHER IS A CARRIER

Hemophilia is classified according to the specific clotting factor that is deficient.

1.      Hemophilia A; also known as Classic hemophilia. It is caused by defect in factor VIII (antihemophilic factor)

2.      Hemophilia B; also known as Christmas hemophilia. It is caused by defect in factor IX (plasma thromboplastin component, or Christmas factor)

3.      Hemophilia C, results from deficiency of factor XI (plasma thromboplastin antecedent)

INCIDENCE

incidence among children less than two years

Hemophilia A is more common with the incidence rate of 1 per 5000 to 10000 live male births. Hemophilia B affects 1 per 30000 live male births. Hemophilia C is rare, accounting for less than 5% of hereditary coagulopathies. The mortality rate for persons with hemophilia is twice that of the healthy male population, and for severe hemophilia, the rate is almost six times higher. Of patients who have hemophilia, 85% have hemophilia A, which is classified by levels of factor VIII.

Severe hemophiliacs have less than 1% activity and have bleeding episodes that require factor VIII therapy several times per month.

Moderate hemophiliacs have 1% to 5% activity and have varying need for factor VIII therapy.

Mild hemophiliacs have a greater activity of more than 5% and require intervention only after trauma or surgery.

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DEGREES OF HEMOPHILIA

1.      An individual with mild hemophilia has 6% to 49% of normal factor level, and usually bleeds only after serious injury, trauma or surgery. The first episode of bleeding may not occur until adulthood.

2.      An individual with moderate hemophilia has 1% to 5% of the normal factor level and has bleeding episodes after injuries, major trauma or surgery. He/she also may experience occasional bleeding without obvious cause, called spontaneous bleeding episodes.

3.      An individual with severe hemophilia has less than 1% factor level and experiences bleeding following an injury or surgery, and may have frequent spontaneous bleeding episodes into the joints and muscles.

A person’s severity of hemophilia does not change over time because factor level is determined by genetics. If a person cannot make clotting factor when he is young, he will never have the ability to make that clotting factor.

CAUSES OF OF HEMOPHILIA

Ø  All forms of hemophilia are as a result of an X – linked recessive trait disorder.

Ø  Both factor VIII and IX genes are on the X chromosome, therefore hemophilia affects males almost exclusively.

Ø  Daughters of men with hemophilia are obligate carriers, but sons of affected men are normal.

Ø  When a carrier woman has a son, his risk of disease is 50% and each of her daughters has 50% risk of also being a carrier.

SIGNS AND SYMPTOMS

• ·        The most common sign is bleeding and hematoma from subcutaneous and intramuscular bleeding.
• ·        Prolonged bleeding; a person with hemophilia is injured, he does not bleed faster than a person without hemophilia, but it takes longer for bleeding to stop. Bleeding also may start again several days after an injury or surgery.
• ·        Easy bruising, prolong nosebleed.
• ·        Fever

• ·        Joint pain and swelling.
• ·        Hematuria (urinating blood), melaena (faeces with blood) and hematemesis (vomiting blood).
• ·        Delayed wound healing.

DIAGNOSTIC INVESTIGATIONS

v  Genetic testing and analysis

v  Assay of factor VIII, IX and XI

v  Coagualation studies; activated partial thromboplastin time (APTT); prothrombin timePT), bleeding time, platelet count.

MEDICAL MANAGEMENT

Replacement therapy and drug therapy may be used prophylactically or to control mild or major bleeding episodes. The following medications are often used;

v  Desmopressin will raise factor VIII levels two to threefold.

v  Factor VIII replacement therapy.

v  Cryoprecipitate; contains high levels of factor VIII and fibrinogen.

v  Purified plasma. This consists of factor VIII concentrates derived from plasma

v  Recombinant factor VIII found in fresh-frozen plasma[FFP], is usually reserved for hemophilia A. patients who are actively bleeding. Bleeding episodes in hemophilia B can be treated with FFP or purified factor IX

v  Hemophilia C rarely requires intervention. Prophylactic replacement therapy for factor VIII or factor IX deficiency has been found to be beneficial in preventing spontaneous bleeding episodes.

v  Other Drugs; Analgesia for hemarthrosis; avoid products containing aspirin and nonsteroidal anti-inflammatories; Antifibrinolytic agents; Aminocaproic acid [Amicar] can be used in oral surgery or bleeding.

 MANAGEMENT AND PREVENTION

v  To prevent trauma that may precipitate bleeding episodes avoid intramuscular injections and minimize the number of venipuncture attempts. Alert other health team members about the patient’s high risk for bleeding.

v  Avoid sources of mucosal irritation such as rectal temperatures, urinary catheters, and suppositories. Use only sponge sticks and nonalcoholic rinses for oral care.

v  Minimize or avoid the use of tourniquets or blood pressure cuffs.

v  When bleeding occurs, apply firm direct pressure for at least 5 minutes or until bleeding has stopped completely to sites of subcutaneous injections and venipuncture sites.  

v  Initially, provide rest and elevation to a bleeding joint. Initiate mobilization within a few days after the bleeding is controlled to facilitate restoration of normal joint range of motion.

v  Apply ice packs to control epistaxis, hematoma formation, and hemarthrosis.

OBSERVATION

Observe the family’s current coping mechanisms and the level of anxiety. Encourage the patient and family members to verbalize their feelings openly and clearly with staff and with each other. Other observations include;

v  Bleeding episodes; Site, extent, duration, associated signs and symptoms, response to interventions

v  Physical responses; Alteration in circulation , movement, or sensation; redness, warmth or swelling around joints; changes in vital signs, intake and output, cognition

v  Pain; Location, precipitating factors, quality, intensity, associated signs and symptoms, factors that alleviate or exacerbate the pain

v  Therapeutic and adverse effects of medical or surgical interventions.

COMPLICATIONS

prolong bleeding

Compression from subcutaneous and intramuscular hematomas are caused by compression of nerves or other structures, resulting in;

v  Peripheral neuropathies, pain

v  Muscle atrophy, ischemia, and gangrene

v  Hemarthrosis, or bleeding into the joint or synovial cavity, is a common complication that often results in joint deformities.

v  Severe, life-threatening bleeding may result from minor injuries.

v  Pulmonary embolism.

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