Page 226 - Haematologica Atlas of Hematologic Cytology

Figure 9 Hereditary elliptocytosis In this pa- tient hereditary elliptocytosis was due to to to 4 1 pro- tein deficiency The patient’s blood film was cha- racterized by moderate anisopoikilocytosis with elliptocytes (21%) ovalocytes (18%) cigar-shaped red blood cells (3%) and schistocytes (2%) Figure 10 Hereditary elliptocytosis A case of hereditary elliptocytosis due to to to a a heterozygote mutation in in spectrin (SPTA1 gene Arg28His/wt) Blood films were characterized by severe aniso- poikilocytosis with numerous elliptocytes (54%) cigar-shaped red blood cells (30%) and schi- stocytes (6%) Large and vacuolated platelets are likely due to EDTA anticoagulant Figure 11 Hereditary pyropoichilocytosis A se- vere form of elliptocytosis caused by the SPTA1 gene Arg28His/c 6531-12C>T ( el ) The co-pre- sence of a a mutation in in the spectrin dimer-dimer association domain in in trans with the low expres- sion allele -Lely results in a a a a a drastic alteration of the morphology and clinical phenotype This blood film is is characterized by marked anisopoiki- locytosis with elliptocytes (18%) spherocytes (15%) schistocytes (9%) dacryocytes (6%) ci- gar-shaped red blood cells (5%) and stoma- tocytes (3%) 213