Hemophilia A, which factor
factor VIII (8) deficiency
Haemophilia B factor
blood clotting factor IX
Management of haemophilia
Regular injections
Haem A uses Desmopressin injection. It works by stimulating the production of clotting factor VIII
Macrocytic anaemia
- alcoholism
- vitamin B12 def (remember pernicious anaemia)
- folate deficiencies
Normocytic anaemia
- anemia of chronic disease
* CKD
Microcytic anaemia
- iron deficiency
* thalassemia
A target INR for recurrent PE /DVT
3.5
Inheritance of hereditary spherocytosis
Autosomal dominant in 75%
- Defect in one of five different genes than encode for proteins in RBC…
- Causing abnormal spherical cells,
- These are retained and destroyed by haemolysis in the spleen, which reduces RBC life span from normal 120 days to sometimes 10d
hereditary spherocytosis diagnosis
Most patients can be diagnosed on the basis of
• family history,
• typical clinical features
• spherocytes, raised MCHC, and an increase in reticulocytes
- FBC and blood film including reticulocyte count
- Spherocytes and reticulocytosis are seen on peripheral blood film
- LFTs (indicative of haemolysis), increased unconjugated bilirubin, LDH and reduced haptoglobin levels
- EMA binding test
Osmotic fragility test - is unreliable and is no longer recommended.
Main complication of hereditary spherocytosis
Risk of Parvovirus (Aplastic crises)
Gallstones in 50%
management of hereditary spherocytosis
- Folic acid
- Blood transfusions for anaemia
- Splenectomy for mod-severe desease - usually curative (then vaccines)
- Cholecystectomy
Presentation of multiple myeloma
- Bone pain (70%)
- Fatigue (30%)
- hypercalcaemia (bone/abdo pain, depression, confusion, weakness, constipation, thirst, and polyuria) 30%
- Weight loss (25%)
- Hyperviscocity symps like headaches, visual ch, breathlessness (7%)
- Cord compression (5%)
- Fever (<1%)
Signs
• Can have hepato / splenomegaly
• Lymphadenopathy
• Normocytic anaemia (70%)
Investigations for 70yr old with bone pain fatigue and weight loss
? Multiple myeloma • FBC (Normocytic anaemia) • Serum calcium • Renal function (impaired in 50%) • ESR • Serum electrophoresis • Bence-Jones protein urine test
but NICE clearly state “don’t use electroph or BJB alone to exclude a diagnosis of myeloma” as false neg in 1-5%
Symptoms of hereditary spherocytosis
- Can be asymp
- signs of jaundice, anaemia
- Splenomegaly
- 50% have gallstones (so RUQ pain)
47yr old with b12 deficiency, no other medical problems
- Pernicious anaemia is most common cause of severe B12 def (in the UK)
- Could be malabsorption or malnutrition
- Alcohol is low folate
If B12 def
• serum anti-intrinsic factor antibodies (high sens, low spec)
• can do this if strong suspicion but normal B12
