Haematology 7: Myelodysplastic Syndrome Flashcards
What are the haematological features of Myelodysplastic syndrome ?
Cytopaenias
Qualitative abnormalities of erythrocytes, myelocytes and megakaryocytes maturation
Name the characteristic bilobed neutrophil seen in MDS ?
Pseudo Pelger-huet anomaly
List some abnormal cells seen with microscopy in MDS ?
Pseudo Pelger huet neutrophils
Ringed sideroblasts
Micro megakaryoblasts
Which disease does MDS often progress to ?
AML
Which drug can be used to treat MDS 5q- syndrome ?
Lenalidomide
List 3 Primary causes of bone marrow failure ?
Fanconi’s anaemia
Diamond blackfan anaemia
Kostmann’s syndrome
Which 2 antibiotics can cause bone marrow failure ?
Chloramphenicol
Sulphonamide
How is fanconi anaemia inherited ?
Mainly autosomal recessive but some are X linked
List 4 congenital abnormalities seen in children with Fanconi anaemia ?
Absent radii
Abnormal thumbs
Cafe au lait spots
Short stature
What is the pathognomonic triad of clinical signs of Dyskeratosis Congenital (DC)?
Skin pigmentation
Nail dystrophy
Leukoplakia
These children look very old! The disease causes premature aging
What is the genetic cause of Dyskeratosis congenita ?
Mutation in Genes that encode proteins involved in maintenance of telomerases. These telomerases get shortened at the ends. This causes premature ageing