Erythrocyte Deformability and Hereditary Elliptocytosis

January 2014 in “ Clinical hemorheology and microcirculation ”

Amparo Vayá, Marta Suescún, Andrea Vicente Pardo, Óscar Fuster

hair loss iron deficiency anemia hypochromic microcytic anemia

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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