Haematology

Question 1

Haemophilia

Answer 1

Factor VIII deficiency A, IX deficiency B (much rarer)
X linked (males)
Mild-severe spectrum, usually MSK bleeds
Usually just treat if bleed, avoid NSAIDs, no IM injections
If severe, give prophylactic infusion factor VIII 3x/week
APTT best test, and genetic testing
INR and platelet count will be normal
In large bleed, give factor VIII/IX and IV tranexamic acid (unless pleural)

Question 2

Sickle cell anaemia

Answer 2

Autosomal recessive single gene defect in the beta chain of haemoglobin, which results in production of sickle cell haemoglobin (HbS)
Vaso-occlusive crises very painful, damage to organs and predispose infection

Question 3

Beta Thalassaemia

Answer 3

Hbb gene mutations so beta-globin deficiency, less Hb produced, microcytic anaemia
Major - hepatosplenomegaly and severe anaemia, diagnosed 3-6 months with ‘chipmunk face’, prominent forehead, pale skin, weakness, delayed growth
Intermedia - anaemia but usually no need for blood transfusions
Minor - carriers only

Treatment
-Folic acid
-Blood transfusions + chelation therapy (defersirox)
-Only cure is stem cell transplant

Question 4

Microcytic anaemia MCV<80

Answer 4

Iron deficiency
Thalassaemia
Chronic disease

Question 5

Normocytic anaemia MCV 80-100

Answer 5

Haemolysis eg sickle cell
Haemorrhage
Renal failure
Pregnancy (increased plasma volume)
Coeliac disease - folate and iron deficiencies cancel each other out

Question 6

Macrocytic anaemia MCV >100

Answer 6

B12 and folate deficiency