Search results
It is hereditary hemolytic anaemia in which the red blood cell is oval-shaped. The primary defect in SAO differs significantly from other forms of elliptocytosis in that it is a defect in the gene coding for a protein that is not directly involved in the cytoskeleton scaffolding of the cell.
Feb 26, 2024 · Hereditary elliptocytosis, or hereditary ovalocytosis, is an inherited heterogeneous red blood cell (RBC) disorder characterized by elongated, oval, or elliptical-shaped RBCs on the peripheral blood smear.
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.
Hereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a form of hereditary elliptocytosis.
Hereditary ovalocytosis is a rare condition passed down through families (inherited). The blood cells are oval-shaped instead of round. It is a form of hereditary elliptocytosis.
Southeast Asian ovalocytosis (SAO) is an autosomal dominant inherited red blood cell (RBC) membrane disorder caused by the heterozygous deletion of codons 400–408 in SLC4A1/band 3/anion exchanger 1 (AE1). 1 This deletion leads to misfolding of the protein, creating an inactive anion-transporter and altering the mechanical stability of the RBC.
Dec 1, 2017 · Inherited in an autosomal dominant way, illness results from deletion of codons 400-408 in SLC4A1 gene which encodes for band 3 erythrocyte membrane protein. This deletion is responsible for an unusual erythrocyte stiffness and oval shape of the cells on blood smear.
