Case 99 – update 2

A blood film has been looked at, no specific findings are noted except for anaemia and occasional spherocytes. There are no red cell fragments, no dysplastic features and no primitive cells.

  • EMA & G6PD are in progress.
  • Parvovirus B19 serology is sent off.
  • Other results are now available:
  • Reticulocyte 9 x 10^9 (50-150)
  • B12 913 pmol/L (145-569)
  • Folate > 20ug/L (3.9-26.8)
  • Haemoglobinopathy screen – no variant haemoglobin, HbF 14% (elevated)

You now have a bit more history. The baby was born at full term with a below average birth weight but has maintained her growth just above the 2nd centile. Other than a cleft palate, she is normally fit and well with no other health concerns. She is waiting for surgery for cleft palate repair, though that has been delayed because parents do not want any surgery until she is a little older. They do not feel that the cleft palate has had any significant impact on her so far and she never had issues with feeding.

She is up to date with her immunisations and there has been no recent illness. She has an older brother aged 4 who is fit and healthy. Mum was told she had folate deficiency in her teens and required folic acid supplement for a time but otherwise no other history of anaemia in the family and no neonatal jaundice.

Our baby girl remains stable but her haemoglobin is now 52g/L and she is becoming more symptomatic. A blood transfusion is planned.

Questions:

1. What other tests are useful to do prior to starting transfusion?

2. How to you confirm the diagnosis?

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