Haem

Question 1

Hemophilia A, which factor

Answer 1

factor VIII (8) deficiency

Question 2

Haemophilia B factor

Answer 2

blood clotting factor IX

Question 3

Management of haemophilia

Answer 3

Regular injections

Haem A uses Desmopressin injection. It works by stimulating the production of clotting factor VIII

Question 4

Macrocytic anaemia

Answer 4

• alcoholism
• vitamin B12 def (remember pernicious anaemia)
• folate deficiencies

Question 5

Normocytic anaemia

Answer 5

• anemia of chronic disease

* CKD

Question 6

Microcytic anaemia

Answer 6

• iron deficiency

* thalassemia

Question 7

A target INR for recurrent PE /DVT

Answer 7

3.5

Question 8

Inheritance of hereditary spherocytosis

Answer 8

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

Question 9

hereditary spherocytosis diagnosis

Answer 9

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.

Question 10

Main complication of hereditary spherocytosis

Answer 10

Risk of Parvovirus (Aplastic crises)

Gallstones in 50%

Question 11

management of hereditary spherocytosis

Answer 11

• Folic acid
• Blood transfusions for anaemia
• Splenectomy for mod-severe desease - usually curative (then vaccines)
• Cholecystectomy

Question 12

Presentation of multiple myeloma

Answer 12

• 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%)

Question 13

Investigations for 70yr old with bone pain fatigue and weight loss

Answer 13

? 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%

Question 14

Symptoms of hereditary spherocytosis

Answer 14

• Can be asymp
• signs of jaundice, anaemia
• Splenomegaly
• 50% have gallstones (so RUQ pain)

Question 15

47yr old with b12 deficiency, no other medical problems

Answer 15

• 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