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Hemophilia
Prepared by: Morad Merwan Abed
Supervised by: Dr. Basim Ayesh
Background
Hemophilia: derived from haima meaning blood, and
philia meaning affection
Genetics
Sex-linked recessive
genetic disorder
affecting X chromosome
(type A & B)
Only females can be
carriers; men are
affected or unaffected
Clinical Manifestations
Diagnosis
Coagulation
Primary Hemostasis
Secondary Hemostasis
Coagulation Cascade
PL: phospholipids
PL
Ca2+
Ca2+
PL
Hemophilia A
Factor VIII Deficiency
Genetics of Hemophilia A
F8 Intron 22 Inversion
F8 intron 1 inversion
Intrachromosomal inversions
cause 50% of cases of severe
hemophilia A
???
Intron 1 or 22 inversion
Delete part of gene
Insert extra nucleotides
Nonsense mutation
Splice site defect
Missense mutation at strategic amino
acid
Hemophilia B
Factor IX Deficiency
Prevalence: 1 per 50 000 males
70% of cases-true deficiency of coagulation factor IX
30% of cases-presence of a dysfunctional protein
Classification:
severe (IX activity <1% of normal)
moderate (IX activity 1-5%)
mild (IX activity 5-25%)
Hemophilia B: Genetics
Factor IX
single chain vitamin K-dependent glycoprotein
415 amino acids
Mechanism:
Hemophilia B Leiden
Hemophilia C
Factor XI deficiency
Hemophilia C: Genetics
Treatments
Treatment Frequency
On-demand
Prophylaxis
Treatments (cont)
Case..
Summary
Summary (cont)
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