HEMOPHILIA

Rasputin was wandering as a pilgrim in Siberia when he heard reports of Tsarevich Alexei's illness. It was not publicly known in 1904 that Alexei had haemophilia, a disease that was widespread among European royalty descended from the British Queen Victoria, who was Alexei's greatgrandmother. When doctors could not help Alexei, the Tsaritsa looked everywhere for help, ultimately turning to her best friend, Anna Vyrubova, to secure the help of the charismatic peasant healer Rasputin in 1905.[7] He was said to possess the ability to heal through prayer and was indeed able to give the boy some relief, in spite of the doctors' prediction that he would die.[7] Every time the boy had an injury which caused him internal or external bleeding, the Tsaritsa called on Rasputin, and the Tsarevich subsequently got better.[citation needed] This made it appear that Rasputin was effectively healing him.

WHAT IS HEMOPHILIA?
Hemophilia is an inherited bleeding disorder in which there is a deficiency or lack of factor VIII (hemophilia A) or factor IX (hemophilia B) Hemophilia is a lifelong disease, but with proper management and self-care, most people with Hemophilia can maintain an active, productive lifestyle.

HEMOPHILIA A
Also called Classic Hemophilia
Occurs in about 85% of people with Hemophilia.
Results from a deficiency or lack of factor VIII.

Mild Hemophilia: 5% to 25% of the normal factor VIII level Moderate Hemophilia:1% to 5% of the normal factor VIII level Severe Hemophilia:less than1% of the normal factor VIII level

The greater the deficiency, the more severe the symptoms.

HEMOPHILIA B
Also called Christmas Disease occurs in about 15% of people with Hemophilia Results from a deficiency or lack of factor IX, Hemophilia B can be: mild, moderate, or severe The greater the deficiency, the more severe the symptoms

Inheritance of Hemophilia
Hemophilia A and B are X-linked recessive disorders. Hemophilia is typically expressed in males and carried by females. Severity level is consistent between family members. ~30 % of cases of hemophilia are new

mutations

CAUSES OF HEMOPHILIA
The cause of Hemophilia is a deficiency of Factor VIII for Hemophilia A , Factor IX for Hemophilia B.

Hemophilia is a genetic disease linked to a defective gene on the X chromosome. A woman who has the defective gene is called a carrier and usually has no symptoms. She carries the disease and can pass it on to her children.

When a woman who is a carrier has a son,

the son receives one X chromosome from his mother, so he has a 50% chance of receiving the defective gene (and a 50% chance of receiving a normal copy of the gene)

Boys who receive the defective gene have Hemophilia.

when a woman who is a carrier has a daughter,

the daughter has a 50% chance of receiving the defective gene and , therefore, being a carrier. Men who have Hemophilia do not pass the disease to their sons because boys inherit only a Y chromosome from their father.

Men do pass their X chromosome, and thus a defective gene, to each of their daughters, so each of their daughters is a carrier

If the father has Hemophilia and the mother is a carrier,

, there is a chance the daughter will have Hemophilia

About 70% of people who have Hemophilia can trace Hemophilia back through their family for multiple generations

GENETICS
Affected males
All daughters are carriers No sons are affected

Female carrier
- 50% risk for carrier daughter
- 50% risk for affected son

Laboratory Evaluation of the Coagulation Pathways

Partial thromboplastin time (PTT)
Surface activating agent (Ellagic acid, kaolin) Phospholipid Calcium

Prothrombin time (PT)

Thromboplastin Tissue factor Phospholipid Calcium

Extrinsic pathway
Thrombin time
Thrombin

Common pathway

Fibrin clot

RECOGNIZING HEMOPHILIA
If there is a family history of Hemophilia, specific tests can be done from an umbilical cord blood sample.
Doctors usually dont see any signs of the condition

at birth.

Symptoms in children may include:

1. Heavy bleeding in a male baby after circumcision.

2. Unusual bleeding during teething.

3. Swollen, bruised joints or muscles when learning to walk.

Degrees of Severity of Hemophilia

Normal factor VIII or IX level = 50-150% Mild hemophilia:
factor VIII or IX level = 6-50%

Moderate hemophilia:
factor VIII or IX level = 1-5%

Severe hemophilia:
factor VIII or IX level = <1%

Clinical manifestations (hemophilia A & B)

Hemarthrosis (most common):
Fixed joints.

Soft tissue hematomas (e.g., muscle):

Muscle atrophy.

Other sites of bleeding:

Urinary tract. CNS, Neck (may be life-threatening).

Prolonged bleeding after surgery. Dental extractions.

Clinical Characteristics
Internal bleeding into joints, muscles and major organs Depending on the factor level bleeding can be spontaneous or caused by trauma Soft tissue bleeding Hematomas

First Bleeding / Diagnosis

Mild
Often has bleeds at an earlier age but not identified till later in life, 3 to 14 years or older

Moderate
usually before 2 years

Severe
within first year

Joint or Muscle Bleeding

Symptoms Tingling or bubbling sensation Stiffness Warmth Pain Unusual limb position

COMMON CHARACTERISTICS/SYMPTOMS
If clotting factor is slightly to moderately low ,bleeding occurs only after surgery or trauma If clotting factor is very low, spontaneous bleeding will occur

Spontaneous bleeding may include:

Deep bruises Joint pain and swelling Internal bleeding

COMMON CHARACTERISTICS/SYMPTOMS
Unexplained bleeding : Blood in urine or stool Prolonged bleeding from: Cuts Injuries, after Surgery Tooth extraction Epistaxis

Emergency signs of Hemophilia

Sudden pain, swelling, and warmth of large joints, such as knees, elbows, hips and shoulders. Sudden pain, swelling, and warmth of the muscles of arms and legs

Types of Bleeding
Joint bleeding - hemarthrosis Muscle hemorrhage

Soft tissue
Life threatening-bleeding

Joint or Muscle Bleeding

Symptoms
Tingling or bubbling sensation Stiffness Warmth Pain Unusual limb position

Life-Threatening Bleeding
Head / Intracranial
Nausea, vomiting, headache, drowsiness, confusion, visual changes, loss of consciousness

Neck and Throat

Pain, swelling, difficulty breathing/swallowing

Abdominal / GI
Pain, tenderness, swelling, blood in the stools

Other Bleeding Episodes

Mouth bleeding Nose bleeding Scrapes and/or minor cuts Menorrhagia

Complications of Bleeding
Flexion contractures Joint arthritis / arthropathy Chronic pain Muscle atrophy

Neurologic impairment

MANAGMENT
General hemophilia isnt curable , but treatment can prevent crippling deformities and prolong life expectancy

General Guidelines
Goal 1. Prevent Injury and Possible bleeding Goal 2. Control Bleeding Episodes Goal 3. Prevent joint degeneration Goal 4. Encourage self care

Treatment of Hemophilia
Replacement of missing clotting protein Intravenous infusion On demand Prophylaxis Primary/Secondary

Factor VIII Concentrate

1. Intravenous infusion
IV push

2. Dose varies depending on type of bleeding

Ranges from 20-50+ units/kg. body weight

3. Half-life 8-12 hours 4. Each unit infused raises serum factor VIII level by 2 %

Factor IX Concentrate
Intravenous infusion
IV push Continuous infusion

Dose varies depending on type of bleeding

Ranges from 20-100+ units/kg. body weight

Half-life 12-24 hours Each unit infused raises serum factor IX level by 1%

Prevent Injury & Possible Bleeding Provide safe environment Use soft bristle toothbrush, NO razors Avoid IM and IV (if so, apply direct pressure at least 5min)

No Aspirin

Prevent Injury & Possible Bleeding

Provide safe environment
Use soft bristle toothbrush, NO razors Avoid IM and IV (if so, apply direct pressure at least 5min) No Aspirin

 Control Bleeding Episodes Local measures: apply direct pressure or ice compress Epistaxis sit up lean forward
Prevent joint degeneration . Immobilize joint during acute bleeding. Progressive exercise. Avoid prolong immobility.

Wear Medic Alert ID . Encourage regular treatment.

Advanced joint and muscle bleed

Advanced Joint Bleed