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FRACP Paediatrics > Haematology > Flashcards

Flashcards in Haematology Deck (7)
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1
Q

What test measures the ability of VWF to bind platelet receptor GPIb?

A
  • VWF:RCo.
  • Ristocetin is an antibiotic that is no longer clinically used as it causes platelet aggregation.
  • When added to plasma the amount of functional VWF in the plasma that causes platelet agglutination can be quantified.
2
Q

In neonatal alloimmune thrombocytopenia which platelet antigens are antibodies most commonly produced against?

A
  • HPA 1a and 5b.
3
Q

What is the most common cause of familial thrombocytopenia?

A
  • Activated protein C resistance (factor V leiden).
  • Point mutation in factor V molecule which prevents inactivation of factor V by activated protein C.
  • Leads to procoagulable state.
4
Q

What are features of Schwachman Diamond syndrome?

A
  • Presents in childhood or infancy with exocrine pancreatic insufficiency, short stature, bony abnormalities and cytopaenia.
  • Not associated with skin changes and carcinomas.
5
Q

What is dyskeratosis congenita?

A
  • Inherited bone marrow failure syndrome.
  • Triad of skin pigmentation, nail dystrophy and oral leukoplakia.
  • Usually diagnosed in adulthood or adolescence.
6
Q

What is congenital amegakaryocytic thrombocytopenia?

A
  • Inherited bone marrow failure syndrome.

- Isolated thrombocytopenia that can progress to pancytopenia.

7
Q

What are features of Diamond Blackfan anaemia?

A
  • Mutation in ribosomal genes (ribosomopathy).
  • AD 7/1,000,000.
  • Profound anaemia 2-6m (90% reconised in 1st year of life).
  • 50% have associated congenital abormalities - hypertelorism, snub nose and high arched palate.
  • Upper limb and thumb abnormalities.
  • Short stature is common.
  • RBC’s generally macrocytic.
  • High ADA expression differentiates from TEC along with macrocytosis.
  • 80% respond to corticosteroids.
  • HSCT recommended in <9y transfusion dependent.