Haematology + oncology

Question 1

what is diamond blackfan anaemia

Answer 1

anaemia that develops < 1 year of age.

due to impaired ribosome synthesis resulting in impaired intrinisic erythroid progenitor cells.

causes macrocytic normochromic anaemia without other cytopenias.

May have endocrine complications such as hypogonadism, adrenal insufficiency, hypothyroidism etc.

associated with other congenital malformation i.e. craniofacial, opthalmologic and limb

< 1 year treated with transfusion
> 1 year treated with steroids
refractory treated with stem cell transplant

Question 2

diamond blackfan anaemia vs fanconi anaemia

Answer 2

DBA autosomal dominant
fanconi x linked or autosomal recessive

DBA present < 1 yr
fanconi presents around 8 yrs

fanconi also causes pancytopenia

Question 3

specific testing for diamond blackfan anaemia

Answer 3

erythrocyte adenosine deaminase (eADA)

Question 4

specific testing for fanconi syndrome

Answer 4

chromosome breakage assay

Question 5

bone marrow feature of diamond blackfan anaemia vs fanconi

Answer 5

DBA: normal cellular marrow with decreased or absent erythroid precursors

fanconi: hypocellular marrow

Question 6

treatment for fanconi syndrome

Answer 6

allogenic haematopeotic stem cell transplant
androgens (stimulate production of rbc)
growth factors (e.g. G-CSF)
blood transfusions

Question 7

genetic mutation associated with cyclic neutropenia

Answer 7

ELANE gene mutation (encode neutrophil elastase)

Question 8

PT, aPTT and bleeding time in vWB disease

Answer 8

normal PT
prolonged aPTT
prolonged bleeding time

Question 9

signs/symptoms fanconi syndrome

Answer 9

low Hg (fatigue etc)
low plt (bruising, nose bleeds etc)
limb abnormalities, hypogonadism, microcephaly