Haematology 7: Myelodysplastic Syndrome

Question 1

What are the haematological features of Myelodysplastic syndrome ?

Answer 1

Cytopaenias

Qualitative abnormalities of erythrocytes, myelocytes and megakaryocytes maturation

Question 2

Name the characteristic bilobed neutrophil seen in MDS ?

Answer 2

Pseudo Pelger-huet anomaly

Question 3

List some abnormal cells seen with microscopy in MDS ?

Answer 3

Pseudo Pelger huet neutrophils
Ringed sideroblasts
Micro megakaryoblasts

Question 4

Which disease does MDS often progress to ?

Answer 4

AML

Question 5

Which drug can be used to treat MDS 5q- syndrome ?

Answer 5

Lenalidomide

Question 6

List 3 Primary causes of bone marrow failure ?

Answer 6

Fanconi’s anaemia
Diamond blackfan anaemia
Kostmann’s syndrome

Question 7

Which 2 antibiotics can cause bone marrow failure ?

Answer 7

Chloramphenicol

Sulphonamide

Question 8

How is fanconi anaemia inherited ?

Answer 8

Mainly autosomal recessive but some are X linked

Question 9

List 4 congenital abnormalities seen in children with Fanconi anaemia ?

Answer 9

Absent radii
Abnormal thumbs
Cafe au lait spots
Short stature

Question 10

What is the pathognomonic triad of clinical signs of Dyskeratosis Congenital (DC)?

Answer 10

Skin pigmentation
Nail dystrophy
Leukoplakia

These children look very old! The disease causes premature aging

Question 11

What is the genetic cause of Dyskeratosis congenita ?

Answer 11

Mutation in Genes that encode proteins involved in maintenance of telomerases. These telomerases get shortened at the ends. This causes premature ageing