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Female Carrier
N/A 1/100,000 1/500,000 N/A
Hemophilia B
Type and extent of bleeding (eg, mucous membrane bleeding, petechiae, hemarthrosis, severity, etc.)
Nose bleeds (epistaxis) Gum bleeds (gingival bleeding) Excessive bruising Gastrointestinal bleeding Bleeding following tooth extraction Post-operative bleeding Heavy periods (menorrhagia) Postpartum hemorrhage Heavy bleeding following cuts
FVIII
Type 1 VWD
most common type of VWD - 70-80% reduced VWF:Ag and VWF:RCo in parallel often, PTT and BT are normal VWF multimers are normal, but reduced concentration inheritance is usually autosomal dominant, occ. recessive very common genetic defect - up to 1-2% of population decreased VWF protein, sometimes reduced mRNA
Treatment:
DDAVP is treatment of choice ! VWF concentrate reserved for those unresponsive to DDAVP or if intensive treatment is required
VWF:Ag VWF:RCo FVIII 32 u/dl 31 u/dl 63 u/dl
Type I: quantitative - normal multimers but decreased amounts Type 2: qualitative abnormality in VWF
2A: absence of (the hemostatically most effective) large multimers of VWF 2B: the large multimers of VWF are abnormal, having a heightened affinity for platelets
Type 3: severe form of VWD- extremely low levels of VWF and FVIII
What is Hemophilia?
Hemophilia is an inherited bleeding disorder in which there is a deficiency or lack of factor VIII (hemophilia A) or factor IX (hemophilia B)
Incidence
Coagulation Cascade X II
TF VIIa VIII/vWF Xa Va IIa VIIIa V Va Platelet TF-Bearing Cell TF IXa IXa VIIa
IX X
II
Xa Va Va
VIIIa
IIa IIa
VIIa
IX
II
Inheritance
Hemophilia A and B are X-linked recessive disorders Hemophilia is typically expressed in males and carried by females Severity level is consistent between family members 30 % of cases of hemophilia are new mutations Affects all races and ethnic groups equally Moderate & mild deficiencies under-diagnosed
Genetics
Affected males
Female carrier
50% risk for carrier daughter 50% risk for affected son
Moderate hemophilia
Severe hemophilia
First Bleed/Diagnosis
Mild
Often has bleeds at an earlier age but not identified till later in life, 3 to 14 years or older usually before 2 years within first year
Moderate
Severe
Once a year Joint and muscle bleed unusual except with significant trauma Trauma-induced or contact sports: significant hematomas Internal deep bleeding only with significant trauma Post op bleeding
Carriers
Carriers may have low factor levels Carriers may experience bleeding symptoms seen in mild or moderate deficient states Treat carriers as potential bleeders
Bleeds once a month Minor trauma causes joint and muscle bleed may have target joints Post surgical: wound hematoma or oozing
Bleeds once a week Spontaneous joint and muscle bleed Target joints
Types of Bleeds
Symptoms Tingling or bubbling sensation Stiffness Warmth Pain Unusual limb position
Treatment of Hemophilia
Intravenous infusion
Half-life 8-12 hours Each unit infused raises serum factor VIII level by 2 %
Adjunctive Therapy
RICE Rest /Replacement Ice/Immobilization Compression Elevation Antifibrinolytic Agents Amicar (aminocaproic acid) Used for mucocutaneous bleeding
Dosing:
50 mg./kg. q. 6 hours po
Pediatric
Adult
Genetics
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