2. What is Haemophilia?
ā¢ Haemophilia is a bleeding disorder that slows the
blood clotting process. People with this condition
experience prolonged bleeding.
ā¢ The major types of this condition are
haemophilia A (factor VIII deficiency) and
haemophilia B (factor IX deficiency
3. History of Haemophilia
ā¢ First recognized by the Jews
ā¢ It became known as the royal disease
ā¢ The word āhaemophiliaā was first used in
1828
ā¢ In 1952 haemophilia B was named after
Stephen Christmas.
6. DEMOGRAPHICS
ā¢ Haemophilia occur much more commonly in males.
ā¢ Haemophilia A is the most common type of the condition; 1 in
4,000 to 1 in 5,000 males worldwide are born with this
disorder.
ā¢ Haemophilia B occurs in approximately 1 in 20,000 newborn
males worldwide.
ā¢ By race/ethnicity, the prevalence is 13.2 cases in 100,000
among white males, 11.0 among African-American males, and
11.5 among Hispanic males.
ā¢ Haemophilia C occurs primarily among individuals of Jewish
descent
7. BIOCHEMICAL BASIS OF HAEMOPHILIA
Homeostasis- Cessation of bleeding. Coagulation
of bleeding.
Two types of hemostasis:
ā¢ Primary hemostasis: A platelet plug is formed
ā¢ Secondary hemostasis: Blood clot formation
11. Gene Structure and Expression
ā¢Hemophilia may be caused by a defect
in one of the genes that determine
how the body makes blood clotting
factor VIII or IX.
ā¢The genes are located on the X
chromosome.
13. Biosynthesis and Biochemistry Factor VIII
ā¢Factor VIII or antihemophilic factor
ā¢A nonenzymatic protein
ā¢2351 amino acids
ā¢Circulates in plasma in complex with von Willibrand
Factor(vWF)
ā¢Biosynthesis occurs in the liver and spleen primarily.
ā¢Function -participate in blood coagulation.
ā¢It is a cofactor for factor IXa which converts factor
X to the activated form (Xa).
14. Biosynthesis and Biochemistry Factor IX
ā¢ Factor IX (Christmas factor, or hemophilia B factor)
ā¢ Produced as a zymogen and circulates in plasma.
ā¢ 415 amino acids.
ā¢ Is a member of the vitamin Kādependent protein family
ā¢ Is cleaved by factor XIa or factor VIIa to produce a two-chain
form where the chains are linked by a disulfide bridge.
ā¢ When activated into factor IXa, in the presence of Ca2+,
membrane phospholipids, and a Factor VIII cofactor, it
hydrolyses one arginine-isoleucine bond in factor X to form
factor Xa.
ā¢ Function-in blood coagulation it activates factor X to factor Xa.
15. SIGNS and SYMPTOMS of HAEMOPHILIA
1. Excessive Bleeding: bleeding can occur
externally or internally
ā¢External
ā¢Bleeding in the mouth from a cut or bite or
from cutting or losing a tooth
ā¢Nosebleeds for no obvious reason
ā¢Heavy bleeding from a minor cut
ā¢Bleeding from a cut that resumes after
stopping for a short time
16. Internal Bleeding
ā¢Blood in the urine (from bleeding in the
kidneys or bladder)
ā¢Blood in the stool (from bleeding in the
intestines or stomach)
ā¢Large bruises (from bleeding into the
large muscles of the body)
17. Bleeding in the joints:
ā¢Bleeding in the knees, elbows, or other joints is
another common form of internal bleeding
ā¢The bleeding causes tightness in the joint with
no real pain or any visible signs of bleeding.
ā¢The joint then becomes swollen, hot to touch,
and painful to bend. Swelling continues as
bleeding continues.
ā¢Movement in the joint is temporarily lost
18. Bleeding in the brain:
ā¢Long-lasting, painful headaches or neck
pain or stiffness
ā¢Repeated vomiting
ā¢Sleepiness or changes in behaviour
ā¢Sudden weakness or clumsiness of the
arms or legs or problems walking
ā¢Double vision
ā¢Convulsions or seizures
19. DIAGNOSIS
ā¢ By family history
ā¢ Haemophilia is diagnosed by taking
sample and measuring the level of
factor activity in the blood.
20. TREATMENT OPTIONS
ā¢ Treatment with Replacement Therapy
ā¢ Desmopressin
ā¢ Antifibrinolytic Medicines
ā¢ Treatment of a Specific Bleeding Site
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