Haemophilia
By:
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 conditio...
History of Haemophilia
• First recognized by the Jews
• It became known as the royal disease
• The word ‘haemophilia’ was ...
HOW IS HAEMOPHILIA INHERITED
CLASSIFICATION OF HAEMOPHILIA
CLASSIFICATION LEVEL OF FACTOR VII OR
IX IN THE BLOOD
Severe Less than 1% of normal
Moderate...
DEMOGRAPHICS
• Haemophilia occur much more commonly in males.
• Haemophilia A is the most common type of the condition; 1 ...
BIOCHEMICAL BASIS OF HAEMOPHILIA
Homeostasis- Cessation of bleeding. Coagulation
of bleeding.
Two types of hemostasis:
• P...
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 ...
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
...
Biosynthesis and Biochemistry Factor IX
• Factor IX (Christmas factor, or hemophilia B factor)
• Produced as a zymogen and...
SIGNS and SYMPTOMS of HAEMOPHILIA
1. Excessive Bleeding: bleeding can occur
externally or internally
•External
•Bleeding i...
Internal Bleeding
•Blood in the urine (from bleeding in the
kidneys or bladder)
•Blood in the stool (from bleeding in the
...
Bleeding in the joints:
•Bleeding in the knees, elbows, or other joints is
another common form of internal bleeding
•The b...
Bleeding in the brain:
•Long-lasting, painful headaches or neck
pain or stiffness
•Repeated vomiting
•Sleepiness or change...
DIAGNOSIS
• By family history
• Haemophilia is diagnosed by taking
sample and measuring the level of
factor activity in th...
TREATMENT OPTIONS
• Treatment with Replacement Therapy
• Desmopressin
• Antifibrinolytic Medicines
• Treatment of a Specif...
Bio chem presentation on hemophilia
Upcoming SlideShare
Loading in …5
×

Bio chem presentation on hemophilia

5,301 views
4,831 views

Published on

Published in: Health & Medicine, Technology
0 Comments
7 Likes
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total views
5,301
On SlideShare
0
From Embeds
0
Number of Embeds
1
Actions
Shares
0
Downloads
282
Comments
0
Likes
7
Embeds 0
No embeds

No notes for slide

Bio chem presentation on hemophilia

  1. 1. Haemophilia By: Kacy Amora Anuradha Boodoo-Balliram Pella Charles Natherly Ferguson Candace Lewis
  2. 2. 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
  3. 3. 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.
  4. 4. HOW IS HAEMOPHILIA INHERITED
  5. 5. 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
  6. 6. 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
  7. 7. 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
  8. 8. Homeostasis
  9. 9. Secondary Homeostasis –Coagulation Cascade
  10. 10. •Haemophilia A •Classic haemophilia •Factor VIII deficiency •Haemophilia B •Christmas disease •Factor IX deficiency
  11. 11. 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.
  12. 12. X chromosome • Factor VIII gene- long arm in band q28 • Factor IX gene - q26.3-27.1
  13. 13. 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).
  14. 14. 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.
  15. 15. 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
  16. 16. 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)
  17. 17. 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
  18. 18. 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
  19. 19. DIAGNOSIS • By family history • Haemophilia is diagnosed by taking sample and measuring the level of factor activity in the blood.
  20. 20. TREATMENT OPTIONS • Treatment with Replacement Therapy • Desmopressin • Antifibrinolytic Medicines • Treatment of a Specific Bleeding Site T

×