Abdul Mannan: Anemia Since Birth and One Fresh Blood Film Changed Everything
Abdul Mannan, Consultant Hematologist at Betsi Cadwaladr University Health Board, shared a post on LinkedIn:
”21 years. Anemia since birth. Every standard test came back inconclusive.
Then someone looked at a fresh blood film.
That one decision changed everything.
A 21-year-old woman had been transfused repeatedly since infancy. At 15, she had her gallbladder removed for gallstones. By 21, her spleen was 23 cm below her ribs. Haemoglobin sat at 81 g/L. Reticulocytes at 13.7%. LDH and bilirubin both raised.
Classic haemolytic picture. But no diagnosis.
Here’s what finally cracked it:
- A review of a pre-surgery blood film showed prominent basophilic stippling in red cells
- That coarse blue-dot pattern strongly points to Pyrimidine 5′ Nucleotidase (P5’N) deficiency
- Enzyme assay confirmed it: severely reduced P5’N activity
Standard smears sent to a UK referral lab? The stippling had disappeared in transit
The timing matters. Basophilic stippling in P5’N deficiency is only visible on fresh blood films.
Delayed samples lose the finding entirely. If the UK lab had received the blood first, the diagnosis would have been missed again.
P5’N deficiency is rare. It is autosomal recessive. The enzyme normally breaks down pyrimidine nucleotides in maturing red cells. Without it, they accumulate, and you get chronic haemolysis with that very specific morphological fingerprint.
The lesson here is not about knowing a rare enzyme deficiency.
It is about never underestimating what a blood film can tell you when it is fresh, examined carefully, and by someone who is looking for something.
Standard labs are a starting point. Your eyes are still the best diagnostic tool.”
Other posts from Abdul Mannan on Hemostasis Today.
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