Hemophilia

includes basic introduction of haemophilia .

1. PRESENTATION BY: SAKSHI M. MANTRI
B.PHARM,STUDENT
SMT. BNB SWAMINARAYAN PHARMACY COLLEGE
SALVAV,VAPI

2. SLIDECONTAINS
3 ABOUT
4 CAUSE
5 TYPES
6 ETIOLOGY
8 PATHOGENESIS
9 INHERITANCE OF HAEMOPHILIA A
10 SIGNS & SYMPTOMS
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

3. An inherited bleeding disorder marked by absence
or low level of clotting factors resulting in excess
bleeding in affect individual. It is an incurable
inherited genetic disorder.
The affected individuals bleed easily and the
blood clot is formed after a long time. They suffer
from spontaneous or internal bleeding and also
experience painful swollen joints due to joints
bleeding. This condition is rare but serious which
may lead to serious complications.
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

4. CAUSES
By Birth
(Genetic)
--: most common
Acquired
(Autoimmune /
mutation)
--: Eg. : immune system
develops antibodies
attacking VII or IX
clotting factor
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

5. ON BASIS OF FACTOR
INVOLVED
Haemophilia A
(Classic haemophilia)
Haemophilia B
(Christmas haemophilia)
Haemophilia C
Haemophilia D
ON BASIS OF SEVERITY
Mild haemophilia (5 to
40% clotting factor in
plasma)
Moderate haemophilia (1
to 5% clotting factor in
plasma)
Severe haemophilia (less
than 1% clotting factor in
plasma)
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

6. HAEMOPHILIA A
-: occur due to deficiency
or reduced activity of
factor VIII (Anti-
haemophilic factor).
-: inherited as sex –(x-)
linked recessivetrait
affects males (generally),
women are generally
carriers.
HAEMOPHILIA B
-: Inherited deficiency
of factor IX
(Christmas factor)
produces Christmas
disease or
Haemophilia B .
-: It is rarerthan
Haemoplilia A
(estimated 1 in 1 lakh
male birth).
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

7. HAEMOPHILIA C
-: occur due to deficiency
or reduced activity of
factor XI
-: autosomal recessive
disorder
HAEMOPHILIA D
-: occur due to deficiency
or reduced activity of
factor V.
-: autosomal recessive
disorder
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

8. Severity of haemophilia varies depending on amount
of clotting factor present in blood .
In mild forms, trauma is followed by excessing
bleeding.
While in severe cases ( less than 1% factor VIII
activity), spontenous bleeding occurs frequently.
About 10% of the haemophilia patients suffer from
the severe form.
In the individuals with no family history of
haemophilia , spontenous gene mutation causes the
disorder.
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

9. NORMAL FATHER
XX
Normal
XY
Normal
XnX
Carrier
XnY
Affected
AFFECTED FATHER
XnX
Carrier
XY
Normal
XnXn
Affected
XnY
Affected
X Y XnX Y
Carrier X
Mother Xn
Carrier X
Mother Xn
25 % Carrier
25% Affected
25 % Carrier
50% Affected
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

10. Internal / External prolong bleeding
Sudden pain and swelling
Neck swelling (Air way compromise)
Joint pain
Tachycardia
Increases breathlessness
Bleeding gums
Nose bleeding
Tight joints
SMT. BNB Swaminarayan Pharmacy College Salvav,vapi

11. SMT. BNB Swaminarayan Pharmacy College Salvav,vapi