Erythrocyte Deformability and Hereditary Elliptocytosis

    January 2014 in “ Clinical hemorheology and microcirculation ”
    Amparo Vayá, Marta Suescún, Andrea Vicente Pardo, Óscar Fuster
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    TLDR Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
    Hereditary elliptocytosis (HE) is a rare hereditary disorder characterized by elongated erythrocytes due to mutations in cytoskeleton proteins like alpha-spectrin, beta-spectrin, and protein 4.2. Most cases are asymptomatic or mild, with over 15% elliptocytes in peripheral blood. A 37-year-old woman with iron deficiency anemia, hair loss, and other symptoms was diagnosed with HE after iron therapy revealed a high percentage of elliptocytes. Her haematimetric test showed hypochromic microcytic anemia, and iron metabolism tests confirmed iron deficiency. Thalassemia was ruled out.
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