A mysterious appearance at zone 1
نویسندگان
چکیده
We present the case of a 76-year-old male with history Type II diabetes presenting for routine HbA1c testing. The profile via capillary electrophoresis (CE) revealed presence an unknown haemoglobin peak 19.3% in Zone 1. Blood film showed microcytosis, hypochromia, poikilocytosis and red cell dimorphism. migrated HbH position on Sebia Capillarys3 Hemoglobin(E) program High Pressure Liquid Chromatography (HPLC). Many bodies were detected Brilliant Creysl Blue (BCB) staining biochemistry was consistent haemolysis. A presumptive diagnosis acquired disease, or alpha thalassaemia-MDS (AT-MDS), determined. nature determined by previously normal indices chromatogram. AT-MDS is disorder that most commonly occurs due to rare somatic mutations ATRX gene, less chromosome 16p. There predominance (6:1) median age 68. These occur 0.2–‘.8% MDS cases produce more severe thalassaemia phenotype when compared germ line ATRX. This highlights novel diagnostic pathway disease emphasises importance investigating ‘incidental’ variants during References Cheong P (2018). Acquired myelodysplastic syndrome [PhD thesis]. University Oxford. https://ora.ox.ac.uk/objects/uuid:847c8f7f-c0d9-4272-8cac-f1c0c0ec4719 2. Steensma DP, Gibbons RJ, Higgs DR. α-thalassemia association other hematologic malignancies. 2005; 105: 443–452.
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ژورنال
عنوان ژورنال: Pathology
سال: 2023
ISSN: ['1465-3931', '0031-3025']
DOI: https://doi.org/10.1016/j.pathol.2022.12.313