Haematology

Question 1

What are one or two symptoms that are characteristic of each leukaemia?

Answer 1

AML - gum hypertrophy, rash
CML - massive splenomegaly
ALL - lymphadenopathy, bone/joint pain
CLL - skin lesions (pruritus, herpes zoster)

Question 2

What is the inheritance pattern of G6PD deficiency?

Answer 2

X-linked

Question 3

What is seen on the blood film in G6PD?

Answer 3

Bite + blister cells, Heinz bodies

Question 4

What precipitates an attack in G6PD?

Answer 4

Fava broad beans, henna, drugs

Question 5

Name two enzyme defects that cause haemolytic anaemia?

Answer 5

G6PD deficiency

Pyruvate kinase deficiency

Question 6

Name two membrane defects that cause haemolytic anaemia?

Answer 6

Spherocytosis

Elliptocytosis

Question 7

What happens in spherocytosis?

Answer 7

Less flexible spherical RBCs get trapped in the spleen -> extravascular haemolysis

Question 8

What can cause aplastic anaemia?

Answer 8

Idiopathic, congenital, drugs, infections (parvo), radiation

Question 9

How to Ix aplastic anaemia?

Answer 9

BM biopsy

Question 10

How to Tx aplastic anaemia?

Answer 10

Immunosuppression

SC transplant

Question 11

Presentation of aplastic anaemia?

Answer 11

Pancytopaenia

Question 12

What is the pathophys of B-thalassaemia?

Answer 12

There is a loss of beta chains which causes the alpha chains to build up and clump together. This causes the RBC to rupture and release heme which breaks down into unconjugated bilirubin and iron. Causes jaundice and secondary haemochromatosis. Causes hypoxia as fewer RBCs circulating and therefore increased RBC production in BM, liver and spleen (which subsequently enlarge)

Question 13

What is the treatment of B-thal?

Answer 13

No treatment for minor

For major/intermedia -> blood transfusions, iron chelation

Question 14

What are the Ix for B-thal?

Answer 14

Bloods - low Hb, MCV
raised iron, ferritin, transferrin
Blood smear - microcytic + hypochromic, target cells
Haemoglobin electrophoresis
Head X-ray - hair-on-end appearance

Question 15

Presentation of alpha-thal?

Answer 15

Anaemia
Hepatosplenomegaly
Skeletal abnormalities

Question 16

What happens in sideroblastic anaemia?

Answer 16

RBCs fail to completely form haem, so iron gets deposited into the mitochondria

Question 17

Causes of sideroblastic anaemia?

Answer 17

Congenital (microcytic)

Acquired (alc, lead, TB meds) - macrocytic

Question 18

Ix for sideroblastic anaemia?

Answer 18

Blood film, BM biopsy

Question 19

Tx for sideroblastic anaemia?

Answer 19

Supportive - blood transfusions, abx, iron chelation
Treat underlying cause
Pyridoxine

Question 20

Sickle-cell anaemia pathophys?

Answer 20

Point mutation in codon 6 in B-globin gene

Coded AA changes from glutamine -> valine

Question 21

Presentation of sickle-cell disease?

Answer 21

Anaemia symptoms
Infections d/t hyposplenism
Priapism
Splenomegaly
Hand-foot syndrome - dactylitis, swelling, pain
Acute chest syndrome/limb/spine bone occlusions

Question 22

How to treat acute SCA?

Answer 22

Analgesia, fluids, O2, abx, blood transfusion, exchange transfusion

Question 23

How to treat SCA?

Answer 23

Hydroxyurea, vaccinations

Question 24

SCA investigations?

Answer 24

Bloods, blood film, sickle solubility test, Hb electrophoresis

Question 25

What is the triad presentation of pernicious anaemia?

Answer 25

Anaemia GI disturbances - diarrhoea, constipation, loss of bladder/bowel function Neuro disturbances

Question 26

How to Ix pernicious anaemia?

Answer 26

``` Bloods Low serum B12 Parietal cell/IF Abs Blood film BM biopsy ```

Question 27

Tx of pernicious anaemia?

Answer 27

3 monthly B12 injections +/- folic acid supplements

Question 28

Source of folate?

Answer 28

Green vegetables, liver, nuts

Question 29

Treatment of folate deficiency?

Answer 29

Folic acid supplements | Give B12 also if low to avoid subacute combined degeneration of the spinal cord

Question 30

What two things can polycythaemia vera turn into?

Answer 30

Myelofibrosis, AML

Question 31

What are the symptoms of polycythaemia vera?

Answer 31

* Hyper-viscosity * Red/red-blue tinge of nose, ear, lips, mouth * Pruritis, typically after a hot bath (due to histamine release from excess basophils and mast cells) * Splenomegaly * Gout, kidney stones