Page 227 - Haematologica Atlas of Hematologic Cytology

CHAPTER 26 - Inherited hemolytic anemias
Figure 12 Hereditary stomatocytosis Mutations in different different genes cause different different forms of stoma- tocytosis whose clinical manifestation varies from asymptomatic to to severe hemolytic anemia signi- ficant co-morbidities such as
iron overload are frequently observed In this patient the PIEZO1 mutation R2456H caused hereditary dehydrated stomatocytosis characterized by severe aniso- poikilocytosis with stomatocytes (9%) target cel- ls (3%) (3%) (3%) dacryocytes (3%) (3%) (3%) schistocytes (3%) (3%) (3%) sphe- rocytes (2%) (2%) and ovalocytes (2%) (2%) It should be noted that the the cells with the the dense central area leaning against the outer membrane have to be classified as
as
stomatocytes Large and vacuolated platelets are likely due to EDTA anticoagulant Figure 13 Hereditary stomatocytosis A case of hereditary stomatocytosis due to to to to mutation R352H in the the KCNN4 gene (the Gardos channel) The blo- od od film shows moderate anisopoikilocytosis with elliptocytes (7%) stomatocytes (4%) spherocytes (3%) and schistocytes (2%) Figure 14 Hereditary stomatocytosis A case of hereditary overhydrated stomatocytosis Ani- sopoikilocytosis is is moderate with stomatocytes (4%) and rare spherocytes Some stomatocytes appear macrocytic due to cell swelling 214