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TAS Haematology > Red Cell Aplasia ✅ > Flashcards

Red Cell Aplasia ✅ Flashcards

1
Q

How does red cell aplasia cause anaemia?

A

Due to reduced or absent red cell precursors in the bone marrow

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2
Q

What are the main causes of red cell aplasia in childhood?

A
  • Diamond-Blackfan anaemia
  • Transient erythroblastopenia of childhood
  • Parvovirus-induced aplastic crisis
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3
Q

What is Diamond-Blackfan anaemia (DBA)?

A

A rare genetic disorder

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4
Q

At what age does DBA present?

A

Usually presents at birth or during infancy, but may present in fetal life and occasionally in older children

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5
Q

What is DBA associated with?

A

Physical abnormalities

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6
Q

What % of cases of DBA are associated with physical abnormalities?

A
  • Craniofacial abnormalities
  • Thumb abnormalities
  • Growth restrictions
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7
Q

What craniofacial abnormalities are associated with DBA?

A
  • Cleft palate

- Typical facies

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8
Q

What thumb abnormalities are associated with DBA?

A
  • Hypoplastic

- Triphalangeal

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9
Q

What is the inheritance of DBA?

A

Autosomal dominant

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10
Q

In what % of cases of DBA is family history present?

A

10-20%

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11
Q

What mutations are involved in DBA?

A

Mutations in various ribosomal protein genes, the most common being RPS19

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12
Q

In what % of cases does a RPS19 mutation occur in DBA?

A

25%

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13
Q

What is the primary mechanism of disease in DBA?

A

Defective ribosomal biosynthesis, resulting in apoptosis and dysfunction in other key pathways

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14
Q

What function are ribosomes vital for?

A

Protein synthesis

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15
Q

What will lab tests down in DBA?

A
  • Microcytic anaemia
  • Low reticulocyte count (usually <30)
  • Normal WCC
  • Normal/increased platelet count
  • Increased HbF
  • Increased levels of eADA
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16
Q

What is eADA?

A

A RBC enzyme - erythrocyte adenosine deaminase

17
Q

What is the clinical relevance of eADA?

A

Measurement of eADA is a useful screening test for DBA, since levels are elevated in most patients

18
Q

What is done when DBA is suspected?

A

Bone marrow biopsy, which will confirm the diagnosis

19
Q

What will be found on bone marrow biopsy in DBA?

A

Reduction in erythroid precursors while other cell types are unaffected

20
Q

What else can be useful for the diagnosis of DBA?

A

Screening for ribosomal protein mutations

21
Q

What treatment are most patients started on after diagnosis with DBA?

A

Oral prednisolone

22
Q

What % of cases of DBA does oral prednisolone induce a response in?

A

70%

23
Q

When is the commencement of steroids usually deferred until in DBA?

A

After initial MMR vaccination

24
Q

What are the options for children with DBA where steroids are ineffective or intolerable?

A

Blood transfusions form the mainstay of treatment

25
Q

What proportion of DBA patients are maintained on regular blood transfusions?

A

Around half

26
Q

What can regular blood transfusions lead to in DBA?

A

Transfusional iron overload in the long term

27
Q

What has recently become a curative option for DBA?

A

HSCT (haematopoietic stem cell transplantation)

28
Q

What is the most common source of stem cells in HSCT for DBA?

A

Healthy sibling donor

29
Q

What is the main differential diagnosis of DBA in neonates?

A

Parvovirus induced red cell aplasia

30
Q

What is the main differential diagnosis of DBA in infants and young children?

A

Transient erythroblastopenia of childhood (TEC)

31
Q

What is the median age of presentation of TEC?

A

2 years

32
Q

What is TEC?

A

A rare transient red cell aplasia, thought to be triggered by an unknown infective agent

33
Q

Why is it important to differentiate TEC from DBA?

A

As recovery occurs spontaneously in TEC, usually within 4-8 weeks, so usually no treatment is needed

34
Q

What can help establish a diagnosis of TEC?

A

Lab tests

35
Q

What are the lab features of TEC?

A

Anaemia In TEC is usually normocytic and associated with neutropenia in some cases. HbF and eADA are normal.

TAS Haematology (7 decks)

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