Anaemia, aplastic

D61.0

DESCRIPTION

Pancytopaenia caused by bone marrow failure with a hypocellular bone marrow without infiltration or fibrosis. May be acquired or inherited. Inherited bone marrow failure syndromes include Fanconi anaemia which has specific associated phenotypic features and chromosomal abnormalities.

DIAGNOSTIC CRITERIA

Clinical

  • Pallor, petechiae, purpura, bleeding, with frequent and/or severe infections.
  • Phenotypic features of Fanconi anaemia include:
    • Café-au-lait spots (skin pigmentary changes),
    • short stature and dysmorphic faces,
    • hypoplasia/absence of radius, fingerised thumb,
    • microcephaly, small eyes, hyperreflexia,
    • renal tract and cardiac abnormalities,
    • hypogonadism.

Investigations

  • Full blood count shows pancytopaenia, with anaemia (may be macrocytic), leucopaenia and thrombocytopaenia.
  • Hypoplastic bone marrow on trephine biopsy.

GENERAL AND SUPPORTIVE MEASURES

Limit the use of blood products as the patient may be sensitised and jeopardise a future bone marrow transplant.
Avoid contact sport.

MEDICINE TREATMENT

For symptomatic anaemia (usually Hb < 7 g/dL):

  • Packed red cells, IV, 34 x weight x deficit in haemoglobin
    • Use leukocyte depleted products.

For active bleeding:

  • Platelets, IV, 20 mL/kg, administered immediately and rapidly over 15–30 minutes through a platelet giving set.
    • If transplant is a possibility, use single donor apheresis platelets rather than pooled random donor platelets; preferably group specific.
    • Use the whole unit, unless the volume compromises cardiovascular status, (particularly in neonates). Apheresis platelets are available in paediatric volumes

For fever (T > 38ºC), broad spectrum antibiotics:
Take blood cultures first.

  • Ceftriaxone, IV, 50–80 mg/kg once daily.
    OR

    If < 1 month old:
  • Cefotaxime, IV, 25–50 mg/kg/dose, 6 hourly.
    AND
  • Amikacin, IV, 25 mg/kg as a loading dose, then 18 mg/kg/dose once daily.

REFERRAL

  • All cases of suspected aplastic anaemia.
  • Stabilise patient before transport with blood and/or platelet transfusions, if necessary, after consultation with a paediatrician or paediatric haematologist.
  • All cases for consideration for bone marrow transplant or immunosuppressive therapy in the case of acquired aplastic anaemia.