HaemophiliaBy:

Kacy Amora

Anuradha Boodoo-Balliram

Pella Charles

Natherly Ferguson

Candace Lewis

What is Haemophilia?

•Haemophilia is a bleeding disorder that

slows the blood clotting process. People with

this condition experience prolonged bleeding.

•The major types of this condition are

haemophilia A (factor VIII deficiency) and

haemophilia B (factor IX deficiency

History of Haemophilia

•First recognized by the Jews

•It became known as the royal

disease

•The word ‘haemophilia’ was first

used in 1828

•In 1952 haemophilia B was named

after Stephen Christmas.

HOW IS HAEMOPHILIA INHERITED

CLASSIFICATION OF HAEMOPHILIA

CLASSIFICATION LEVEL OF FACTOR VII OR IX IN THE BLOOD

Severe Less than 1% of normal

Moderate 1% to 5% of normal

Mild 5% to 30% of normal

DEMOGRAPHICS•Haemophilia occur much more commonly in males.

•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.

•Haemophilia B occurs in approximately 1 in 20,000

newborn males worldwide.

•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.

•Haemophilia C occurs primarily among individuals of

Jewish descent

BIOCHEMICAL BASIS OF HAEMOPHILIA

Homeostasis- Cessation of bleeding. Coagulation of bleeding.

Two types of hemostasis:

• Primary hemostasis: A platelet plug is formed

• Secondary hemostasis: Blood clot formation

Homeostasis

Secondary Homeostasis –Coagulation Cascade

•Haemophilia A

•Classic haemophilia

• Factor VIII deficiency

•Haemophilia B

•Christmas disease

• Factor IX deficiency

Gene Structure and Expression

•Hemophilia may be caused by a

defect in one of the genes that

determine how the body makes

blood clotting factor VIII or IX.

•The genes are located on the X

chromosome.

X chromosome

• Factor VIII gene- long arm in band q28

• Factor IX gene - q26.3-27.1

Biosynthesis and Biochemistry Factor VIII

•Factor VIII or antihemophilic factor

•A nonenzymatic protein

•2351 amino acids

•Circulates in plasma in complex with von

Willibrand Factor(vWF)

•Biosynthesis occurs in the liver and spleen

primarily.

•Function -participate in blood coagulation.

•It is a cofactor for factor IXa which converts

factor X to the activated form (Xa).

Biosynthesis and Biochemistry Factor IX•Factor IX (Christmas factor, or hemophilia B factor)

•Produced as a zymogen and circulates in plasma.

•415 amino acids.

•Is a member of the vitamin K–dependent protein family

•Is cleaved by factor XIa or factor VIIa to produce a two-

chain form where the chains are linked by a disulfide bridge.

•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.

•Function-in blood coagulation it activates factor X to factor

Xa.

SIGNS and SYMPTOMS of HAEMOPHILIA

1. Excessive Bleeding: bleeding can occur

externally or internally

•External

• 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

Internal Bleeding

•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 joints:

•Bleeding in the knees, elbows, or other

joints is another common form of internal

bleeding

•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.

•Movement in the joint is temporarily lost

Bleeding in the brain:

• Long-lasting, painful headaches or neck

pain or stiffness

• Repeated vomiting

• Sleepiness or changes in behaviour

• Sudden weakness or clumsiness of the

arms or legs or problems walking

• Double vision

• Convulsions or seizures

DIAGNOSIS

•By family history

•Haemophilia is diagnosed by

taking sample and measuring the

level of factor activity in the blood.

TREATMENT OPTIONS

•Treatment with Replacement

Therapy

•Desmopressin

•Antifibrinolytic Medicines

•Treatment of a Specific Bleeding

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