Peripheral blood features of iron overload in post‐splenectomy, type I congenital dyserythropoietic anemia

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A 41-year-old man known to have congenital dyserythropoietic anemia type I was under regular hematologic follow-up. He had been diagnosed in 1994, at the age of 18, after moving from the Lebanon to the United Kingdom and had been shown to be homozygous for the CDAN1 mutation (c.3124 C>T p.Arg1042Trp). A second degree relative was similarly affected. Initial treatment had been with interferon alpha for 1 year but thereafter anemia was progressive and in 2002 splenectomy was required. This led to an initial improvement in the hemoglobin, sustained above 100 g/L till 2008, but falling to 93–95 g/L thereafter. A liver biopsy in 2000 revealed hepatic siderosis with mild portal tract fibrosis. Subsequently, despite iron chelation therapy, he developed type II diabetes mellitus. The top and bottom left images show the patient's blood film in 2021 at which time his blood count was: WBC 14.8 × 109/L, Hb 76 g/L, MCV 104 fl, MCH 33.1 pg, MCHC 332 g/L, and platelet count 518 × 109/L. Abnormalities present include macrocytes, Howell-Jolly bodies, target cells, acanthocytes, schistocytes, basophilic stippling and unusually prominent Pappenheimer bodies. For comparison, the bottom right image shows an archival pre-splenectomy film (all images ×100 objective). The post-splenectomy images show the combined effects of the underlying disease, the splenectomy and iron overload. The author declares that there is no conflict of interest.

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