A 60-year-old male was referred with a four month history of anemia and persistent chest infections. His blood count showed hemoglobin concentration 76 g/l, MCV 93.2 fl, neutrophils 1.8 × 10 9 /l and platelets 247 × 10 9 /l. A blood film showed anisopoikilocytosis, basophilic stippling, hypogranular neutrophils, and occasional pseudo-Pelger-Huët forms. No blast cells were seen. Serum vitamin B 12 was normal at 196 ng/l (normal range 160−800), although the serum folate was slightly below normal at 101 ng/ml (126−480 ng/ml).A bone marrow aspirate was hypercellular. Erythropoiesis was markedly increased at 79% and myelopoiesis was markedly reduced. Myeloblasts were not significantly increased at 3%. There was gross dyserythropoiesis with multinucleated and giant erythroblasts being prominent (images); there were up to five nuclei per erythroblast and nuclei of a single cell sometimes differed in size and chromatin structure. Other erythroid abnormalities included nuclear fragmentation, internuclear bridges, prominent nucleoli (centre), cytoplasmic vacuolation (centre), and basophilic stippling. Most erythroblasts were normoblastic with a minority being megaloblastic. Some of the erythroblasts were reminiscent of those in congenital dyserythropoietic anemia but the presence of neutrophil dysplasia pointed to a diagnosis of myelodysplastic syndrome.The suspicion of a haematological neoplasm was confirmed by cytogenetic analysis. This revealed a complex male karyotype in seven of the ten metaphases analysed. A single near diploid cell showed monosomy 5 and 12, additional material replacing the short arm of chromosome 21 and a marker chromosome of unknown origin. The remaining six abnormal cells showed a hypotetraploid karyotype. The abnormalities appeared to have arisen from a genome doubling event affecting an abnormal clone represented by the single near-diploid cell, with subsequent loss of chromosome 8, 9, 11, 14, 15 and 18. The abnormalities were variable between cells. The composite karyotype was 45,XY,-5,-12,add(21 -3,-3,-5,-5,-7,-7,-8,-9,-11,-12,-12,-15,-16,-16,-17,-17,-18,add(21) The final diagnosis was refractory anemia with multlineage dysplasia (myelodysplastic syndrome with multilineage dysplasia in the 2017 revision of the WHO classification).
Background Hyperhaemolysis is a rare and life‐threatening delayed haemolytic transfusion reaction characterised by complement‐mediated destruction of both host and transfused red cells. It is well recognised as a complication of transfusion in patients with haemoglobinopathies and has occasionally been described in haematological malignancy and anaemia of chronic disease. Anti‐HI antibodies are usually clinically insignificant but have rarely been associated with haemolytic transfusion reactions, including cases of hyperhaemolysis in sickle cell disease. Methods and materials Here, we describe a novel case of a patient with myelodysplastic syndrome developing hyperhaemolysis as a result of an anti‐HI alloantibody following their first‐ever transfusion. The patient required multiple lines of treatment, including erythropoietin, haematinic supplementation, corticosteroids, intravenous immunoglobulin and rituximab. Results Following treatment, steady‐state haemoglobin was achieved with quiescent haemolysis, and complement inhibition with eculizumab was considered but ultimately not required. Conclusion This is the first known report of hyperhaemolysis with an anti‐HI antibody in a non‐haemoglobinopathy patient. The treatment of hyperhaemolysis is evolving, and future commissioning needs to consider the role of complement inhibition in non‐haemoglobinopathy patients.
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