Haematology

Question 1

What is the inheritance pattern of Diamond-Blackfan syndrome?

Answer 1

Autosomal dominant

Question 2

What are the features of Diamond Blackfan syndrome?

Answer 2

Webbing of neck, short stature, cleft palate, thumb anomalies, microcephaly, hypertelorism, micrognathia

Question 3

What is Fanconi SYNDROME?

Answer 3

Impaired kidney tubule function presenting as polyuria, polydipsia and rickets. NOT ANAEMIA. NOT HAEMATOLOGY YOU DICK!

Question 4

What is transient erythroblastopenia of childhood?

Answer 4

Reticulocytopenia at about 12 months of age

Question 5

What is the inheritance pattern for fanconi’s anaemia ?

Answer 5

Autosomal recessive

Question 6

What is the test for fanconi anaemia?

Answer 6

Chromosome breakage test

Question 7

What abnormalities are associated with fanconi anaemia?

Answer 7

Short stature, forearm abnormality, small head/eyes.
Renal malformation (25%)

Question 8

Is HUS a notify able disease ?

Answer 8

Yes!

Question 9

What does HUS initially look like on FBC?

Answer 9

Thrombocytopenia, red blood cell fragments, neutrophilia and toxic granulations

Question 10

Ashkenazi Jew presenting Ruth fatigue limb pain, big liver and pan trope is suggests what ?

Answer 10

Gaucher’s disease
Lysosomal storage disease