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Haemoglobinopathy and coagulopathy quiz

Haemoglobinopathy and coagulopathy quiz. Is caused by a point mutation in the DNA coding for the a-globulin chain Is more common in Europe than Africa Is associated with gall stones Is associated with hypersplenism May confer some resistance to malaria. False – B-globulin chain

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Haemoglobinopathy and coagulopathy quiz

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  1. Haemoglobinopathy and coagulopathy quiz

  2. Is caused by a point mutation in the DNA coding for the a-globulin chain • Is more common in Europe than Africa • Is associated with gall stones • Is associated with hypersplenism • May confer some resistance to malaria • False – B-globulin chain • False – common in W & E africa, mediterranean and middle east • True – due to chronic haemolysis • False – hyposlenism • True – Due to creation of hostile environment for plasmodium in RBC SICKLE CELL DISEASE

  3. 62 year old women • PC: persistent ginigival bleeding after dental surgery 5 hours ago • Application of pressure and ice didn’t stop bleed • Similar episode 6/12 prior – bleeding only stopped after 6 hours of pressure application • What are the differentials of bleeding??

  4. Deficiency or inhibition of coagulation factors • Von willebrands disease • Unfractionated heparin • Direct thrombin inhibitors • Vit K deficiency • Liver disease • Warfarin • Prothrombin, fibrinogen, factor V or factor X deficiency or inhibition • Disseminated intravascular coagulation

  5. What questions would you ask about her history?

  6. Previous response to haemostatic challenges – surgery, childbirth, tooth extractions • Sites of bleeding • Timing of bleeding after trauma • Current and past medications • Thorough systems review – screening for diseases that may disrupt haemostasiseg cancer, liver, renal or thyroid disease • FH of bleeding disorders

  7. Generally in good health • No previous: • Bruising • Epistaxis • Rectal bleeding • Haematuria • Weakness • Fatigue • Light-headedness • Fevers • Athralgias • Dyspnea • Jaundice • Abdo pain • Back pain • Rashes • Confusion

  8. PMH: • 20 yrs ago – DVT whilst on oral contraceptives • 2 previous surgeries with no complications • Meds: • Thiazide • Aspirin/acetaminophen/caffeine pill 1/24 before dental procedure • FH • Lung and bowel cancer • No bleeding problems • SH • Non smokeror drinker

  9. Overweight black women • Vitals normal • Oral cavity – slow oozing blood from molar, no mucosal laceration • No oral petechiae, bullae or ulcers • Mild conjuctival pallor, no icterus • No lymphadenopathy • Lung, heart, abdo, DRE, neuro, skin - normal

  10. What do these clinical findings indicate? • What investigations should be performed?

  11. Hg – slightly lowered • MCV - normal • BUN – high-normal • Creatinine – slightly raised • Glucose – normal • Calcium – high-normal • Total protein – 86 (60-80g/L) • Albumin – normal • LFTs and electrolytes – normal • Urinalysis – normal • PT – normal • aPTT – 49.6s (23.8-36.6) What do these tests indicate?

  12. What are PDx for increased aPTT and normal PT? • Inhibition/Deficiency of factor VIII, IX, XI • Von Willebrand’s disease • Unfractionated heparin

  13. What causes factor inhibition? • Pregnancy • Thoracic surgery • Certain medications • Viral infections • Lymphomas and other cancers • Autoimmune disorders

  14. Further tests showed: • Reduced factor VIII activity • Reduced plasma von willebrandfactor antigen • Reduced ristocetin cofactor activity What do these tests indicate?

  15. In this case is the von willebrand’s disease more likely to be congenital or acquired? • This patient had acquired von willebrand’s disease • Caused by multiple myeloma A Bloody Mystery. NEJM, Nov 5 2009http://www.nejm.org.ezproxy.library.uq.edu.au/doi/pdf/10.1056/NEJMcps066546

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