Microcytic Anaemias

Question 1

Signs of iron deficiency anaemia

Answer 1

Koilonychia
Angular Stomatitis
Post Cricoid web
Atrophic tongue

Question 2

Causes of IDA

Answer 2

Increased Loss - Menorrhagia, GI Bleeding, Hookworms

Decreased intake - Dietary

Malabsorption - Coeliac, Crohn’s

Question 3

Investigations of IDA

Answer 3

HAEMATINICS - Ferritin, Increased total Iron Binding capacity (TIBC) decreased Transferrin saturation

FILM - Poikilocytosis, Pencil Cells
Upper and Lower GI endoscopy to look for Bleeds

Question 4

Treatment of IDA

Answer 4

Correct deficiency - Iron Supplements - can be given IV if not tolerated Orally

Address the cause - Diet advice, Sx, Gynae intervention

Question 5

Side effect of iron Supplementation

Answer 5

GI upset - Constipation, Dark/Black stools

Question 6

You suspect someone has IDA- check Ferritin and it is normal. What may be the cause of Anaemia now?

Answer 6

Anaemia of chronic disease or Thalassaemia

Question 7

What is thalassaemia

Answer 7

Globinopathy - Point mutation in Beta chains or deletion of Alpha chains –> causes membrane damage and haemolysis within bone marrow –> removal by spleen

Inherited microcytic, haemolytic anaemia

Question 8

Common in

Answer 8

Mediterranean and Far East

Question 9

Genetic transfer

Answer 9

Autosommal recessive

Question 10

Alpha thalassaemia

Answer 10

Deletions due to the Ch16
1 deletion - thal trait
2 deletions - thal minor - asymptomatic microcytic anaemia
3 deletions - Moderate to severe HbH haemolytic anaemia
4 deletions - (Hb Barts - no Erythropoesis) Hydrops Fetalis (death in utero)

Question 11

Ix of Alphathal

Answer 11

FBC - Microcytic MCV
Ferritin levels - Normal
Peripheral Blood smear will show Target cells
Hb Electrophoresis - Find out what #of genes are deleted (HbH or Hb Barts will how up)
Genetic Studies

Question 12

Mx of Alphathal

Answer 12

1 gene - Leave it
2 gene - Watchful waiting
3 gene - Blood transfusion
4 gene - No cure

Question 13

Beta thalassaemia

Answer 13

Point Mutation of Ch11 (stop Codon)
Heterozygous - B-thal Minor
Homozygous - B-thal Major/intermedialis

Question 14

Ix for B-thal minor

Answer 14

Blood count - Microcytic anaemia with Normal Ferritin profile BUT increased RBC
Hb Electrophoresis shows - HbA2 and HbF are increased

Extramedullary erythropoesis occurs and so HSM

Question 15

Mx of B-thal

Answer 15

Blood Transfusion - Be careful of iron over loa, you will require iron chelators.

Question 16

Quick note on Anaemia of Chronic Disease

Answer 16

Microcytic anaemia

Normal Ferittin just cannot utilise it