BLEEDING DISORDERS

HEMOPHILIA
 Hemophilia
 It is a condition in which the blood does
not clot normally .
 And its an inherited bleeding disorders
(disease).
 Type of HEMOPHILIA
 Hemophilia A is caused by a genetic
defect that results in deficient or defective
factor VIII.
 Hemophilia B (also called Christmas
disease) stems from a genetic defect that
causes deficient or defective factor IX.
 Etiology

 Both of these disorders are inherited in an x-

linked recessive pattern.
 Numerous mutations in the gene structure have
been described. Genetic abnormalities include
genetic deletions of variable size, abnormalities
with stop codons, and frame-shift defects. These
mutations include partial and total deletions,
missense mutations, and others that result in the
decreased or absent production of FIX or the
production of an abnormal protein.
The inheritance of hemophilia
 Classification

 Hemophilia A (FVIII deficiency) & B (FIX

deficiency)
 Based on coagulation factor activity &
severity
 Mild (< 1% of normal)
• post-traumatic bleeding (major trauma)
 Moderate (1-5% of normal)
• post-traumatic bleeding, occasional spontaneous bleeding
 Severe (5-20% of normal)
• Frequent spontaneous bleeding
Table 1. Main Clinical & Laboratory Findings in Hemophilia A & B

Hemophilia B Hemophilia A

Sex-linked Sex-linked Inheritance

Muscle, joints, post-trauma Muscle, joints, post- Main site of hemorrhage
or postoperative trauma or postoperative
Normal Normal Platelet count
Normal Normal Bleeding time
Normal Normal Prothrombine time
Prolonged Prolonged Partial thromboplastin time
Normal Low Factor VIII
Low Normal Factor IX
 Lab diagnosis
1. BT: prolonged
2. CT : normal
3. Hess test: > 5 purpuric spots
4. Platelet count : normal
5. Platelet function: normal
 Clinical Manifestations
 Hemorrhages into various parts of the
body.
 Hemorrhage can occur even after minimal
trauma.
 Bleeding in the joints ( eg. knees, elbows,
ankles, shoulders, wrists, and hips).
 Pain and Swelling of the joints can cause
limitation of motion.
 Clinical Manifestations

 Hematomas can be superficial or deep

hemorrhages into muscle or subcutaneous
tissue. With severe factor deficiency, they
can occur without known trauma and
progressively extend in all directions.
 Clinical Manifestations

 When the hematomas occur within

muscle, particularly in the extremities,
peripheral nerves can be compressed.
Over time, this compression results in
decreased sensation, weakness, and
atrophy of the area involved.
 Clinical Manifestations
 Spontaneous hematuria and gastrointestinal bleeding
can occur.
 Bleeding is also common in other mucous membranes,
such as the nasal passages.
 The most dangerous site of hemorrhage is in the head
(intracranial or extracranial). Any head trauma requires
prompt evaluation and treatment.
 Surgical procedures typically result in excessive
bleeding at the surgical site. Because clot formation is
poor, wound healing is also poor.
 Such bleeding is most commonly associated with dental
extraction.
 Management
 In the past, the only treatment for
hemophilia was infusion of fresh frozen
plasma.
 Nowfactor VIII and factor IX concentrates
are available.
 Administration of concentrates factor VIII and
factor IX to the patients when they are actively
bleeding or as a preventive measure before
traumatic procedures (eg, lumbar puncture,
dental extraction, surgery).
 Management

 The patient and family are taught how to administer

the concentrate intravenously at home at the first sign
of bleeding. It is crucial to initiate treatment as soon
as possible so that bleeding complications can be
avoided.

 A few patients eventually develop antibodies to the

concentrates, so their factor levels cannot be
increased. Treatment of this problem is extremely
difficult and often unsuccessful.
 Management
 Aminocaproic acid (EACA; Amicar) is a
fibrinolytic enzyme inhibitor that can slow
the dissolution of blood clots that do form.

 Another agent, desmopressin induces a

transient rise in factor VIII levels; the
mechanism for this response is unknown.
(In patients with mild forms of hemophilia A)
 Management
 Avoid any agents that interfere with platelet
aggregation, such as aspirin, NSAIDs,herbs,
nutritional supplements, and alcohol.
 Splints and other orthopedic devices may be
useful in patients with joint or muscle
hemorrhages.
 All injections should be avoided
 Invasive procedures (eg, endoscopy, lumbar
puncture) should be minimized or performed
after administration of appropriate factor
replacement.
 Management
 Patients with hemophilia should be
encouraged to carry or wear medical
identification.
 Analgesia.
‫اعداد‬
‫عبيده ابو عابد‬ ‫‪.1‬‬
‫أيمن الطويل‬ ‫‪.2‬‬
‫أحمد العكر‪H‬‬ ‫‪.3‬‬
‫عالء الصالحي‬ ‫‪.4‬‬