1. Dr. Festus Njuguna Moi University/MTRH
HAEMOPHILIA: What we know, future perspectives and the Kenyan Situation.
Dr. Festus Njuguna
Moi University/MTRH

2. INTRODUCTION Genetic X-linked disorder Haemophilia A and B
Affects 1 per 10,000 deliveries
30% of cases due to new mutations
Haemophilia A more common

3. Range of Factor VIII or IX Activity
High levels found in pregnancy
Normal range of FVIII & IX
~1/3 of carriers have levels in low or below normal range
Level above which bleeding after injury is unlikely
Mild hemophilia
Moderate hemophilia
Severe hemophilia

4. INTRODUCTION Joint bleeds ( knee, ankle) is the commonest presentation
Also causes muscle bleeds, intracranial bleeding, GIT bleeding

5. Bleeding episodes 70-80% of bleeding episodes are into joints Acute
Pain, swelling, interference with normal activities
Chronic
Synovial hypertrophy and synovitis leading to hemophilic arthropathy, disability
Common bleeding sites:
Knees
45%
Elbow
30%
Ankle
15%
Shoulder 3%
Wrist
Hip 2%
Other
Bleeding Complications in Hemophilia
Joint bleeding or hemarthrosis is common in hemophilia and may result in significant long term disability. Approximately 60% of all bleeding episodes in patients with severe hemophilia occur in joints; most commonly involved joints include the knees (more than 50% of these episodes), followed by the elbows, ankles, shoulders, and wrists. The acute symptoms of these bleeding episodes include pain, swelling, and an inability to participate in normal activities. Recurrent hemarthroses lead to chronic inflammation of the joint lining or synovium, called synovitis, followed by synovial hypertrophy, subsequent arthropathy, and disability.
Arun B, Kessler CM. Clinical manifestations and therapy of the hemophilias. In: Colman RW, Hirsh J, Marder
VJ, Clowes AW, George JN, eds. Hemostasis and Thrombosis: Basic Principles and Clinical Practice. 4th ed.
Philadelphia, Pa: Lippincott, Williams & Wilkins; 2000:
Arun B, Kessler CM. In: Colman et al, eds. Hemostasis and Thrombosis: Basic Principles and Clinical Practice. 4th ed. 2000:
World Federation of Hemophilia (WFH). Guidelines for the Management of Hemophilia

8. LABORATORY EVALUATION
Prolonged APTT
Mixing studies
Factor assays
Inhibitor testing

9. TREATMENT Replace missing factor
Whole blood, FFP, cryoprecipitate, factor concentrates( plasma derived, recombinant)
RICE( Rest, Ice, compression, Elevation)
Physiotherapy
Desmopressin ( Factor VIII only)

10. Factor Replacement On demand therapy
Prophylaxis: Maintain factor level above 1%
Requires infusion 2-3 times a week at a dose of about 20-40IU/Kg
Prophylaxis for Surgery and invasive procedures

12. INHIBITORS Occur more commonly in Factor VIII deficiency
High and low titer levels
Immune tolerance may be used
Treatment is by use of passing agents: Activated Prothrombin Complex concentrate of Recombinant Activated Factor VII

13. NEW TREATMENT STRATEGIES
Increased half life of the products: PEGylation, Fc or albumin fusion( IX extended 3-6 times while VIII extended to 1.5 times
Agents that use alternative mechanisms to activate coagulation( emicuzumab)

14. New strategies Gene Therapy: Studies ongoing for last 10 years
Changes severe to a mild phenotype
More successful with factor IX than VIII

15. KENYAN PERSPECTIVES
We expect to have at least 4,000 people with the condition in Kenya
Access to diagnosis and care quite limited
About 400 patients currently identified.
Government not buying factor concentrates.
There is ability to confirm diagnosis at KNH, MTRH and some private Laboratories

16. KENYAN PERSPECTIVES
Kenya Haemophilia Association(KHA) is a Patient/Parent/ Health workers association
Objectives:
Advocacy,
awareness creation
Improving access through training health care providers, facilitating acquisition of diagnostic equipment

17. Kenyan perspectives
Most of the factor we have is from Donations mainly from WFH.
We have extended half life products
Treatment available in KNH, MTRH, Coast Provincial hospital, Muranga County Hospital,
Upcoming clinic in Kisii county Hospital

18. Conclusion
Replacement of deficient clotting factor is the mainstay of therapy.
There are emerging therapies that will reduce need for frequent factor infusions
We still have huge gaps in the care of People living with Haemophilia in our country.