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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Sep 25, 2026, 09:49Haley Coleman: Volunteering to Support Hemophilia Awareness
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Sep 25, 2026, 08:55Hitarth Mehta: BHMS Students Gain Practical Exposure to Haemophilia Diagnosis
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Sep 25, 2026, 07:25Varun Capoor: How Therapeutic Apheresis and Transfusion Medicine Can Complement Clinical Management in SCD
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Sep 25, 2026, 07:14Manshi Kesharwani: SAK-GQDs Modulate Thrombus Burden and Endothelial Function in Deep Vein Thrombosis
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Sep 25, 2026, 06:20Farjah Hassan Algahtani: How Can We Better Identify Patients at Risk of Blood Clots after Metabolic and Bariatric Surgery?
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Sep 25, 2026, 05:59Carla Lewis: Kids Conquering Sickle Disease Joins Nemours Children’s Hospital for 2nd Annual Awareness Event
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Sep 25, 2026, 05:47Omid Seidizadeh: Evolutionary Constraint and Population Variation Across Coagulation Genes
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Sep 25, 2026, 05:40Gerald Bertrand: Presenting UMi-NGS Non-Invasive Foetal HPA Genotyping at DGTI 2026
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Sep 25, 2026, 05:33Urge Congress to support the Sickle Cell Disease Comprehensive Care Act – ASH