myelodysplastic syndromes

Question 1

Hb 29

total white cell count 109

platet count 273

neutrophil count 0.34

blood urea 29.5

which is normal?

Answer 1

platelet count

wcc 4-11

platelet 15-400

HB >13 M

neutrophil 2-7.5x10^9L

urea 2.5-6.7

Question 2

what is this? what are some differentials

Answer 2

aplastic anaemia

differntials of pancytopenia + hypocellular marrow hypoplastic MDS/AML

hypocellular ALL

hairy cell luekaemia

mycobacterial (atypical infections)

anorexia nervosa (fat replacement of bone marrow)

ITP (immune destruction of platelets, normal haemoglobin/WC)

Question 3

stain for reticulocytes

Answer 3

methylene blue

Question 4

aplastic anaermia criteria periheral blood features 2/3

Answer 4

reticulocytes <1% (methylene blue stain)

neutrophils <0.5

platelets <20

bone marrow <25% cellularity

Question 5

6 year old boy

pancytopenia (aplastic anaemia)

congenital abnormalities (skin renal short stature)

cafe au lait spots

Answer 5

fanconi anaemia

(xlinked or recessive)

fragile chromsomes

Question 6

x linked chromsomal instability telmorere shortening

triad of skin pigmentation, nail dystrophy, oral leukoplakia and bone marrow failure

Answer 6

dyskeratosis congenita

Question 7

genetic basis of dyskeratosis congenita

Answer 7

DKC1 gene defective telomerase function

telomere shortening

Question 8

idiopathic aplastic anaemia and dyskeratosis congenita similarities ?

Answer 8

both have telomeric shortening

chromsomal instabiltiy

and progresses to malignancy