Case 118 – the summary

This is a case of a 3 month old infant girl presenting with evidence of haemolysis.

Blood film showed irregularly contracted cells, target cells and polychromasia.  The reticulocyte count was raised and direct antibody test (DAT) was negative.

This is suggestive of a congenital haemolytic anaemia.  The causes of congenital haemolytic anaemia can be divided into two causes: membrane or enzyme deficiency.

Membrane causes include amongst others, hereditary spherocytosis and hereditary elliptocytosis.  There was no evidence of such causes on this blood film.

Enzyme causes include G6PD deficiency but this is unlikely in a female patient (it is inherited in an X-linked fashion).  Other possibilities include pyruvate kinase deficiency or triosephosphate isomerase deficiency.

In this case the diagnosis was triosephosphate isomerase deficiency.

  • inheritied in an autosomal recessive manner
  • due to mutations in the TPI1 gene
  • presents in infancy with pallor and jaundice
  • associated with movement disorders in older patients (usually apparent by 2 years of age)

 

Further information can be found here:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503903/pdf/br-52-84.pdf

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