See Also: Elliptocytosis(medicine)
Elliptocytosis(health)
elliptocytosis, hereditary(medicine)
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medicine(dictionary)
medicine man(encyclopedia)
medicine(encyclopedia)
Medicine(medicine)

Elliptocytosis (medicine)


elliptocytosis


Haematologic disorder characterised by elliptically shaped red blood cells (elliptocytosis) with variable breakup of red cells (haemolysis) and varying degrees of anaemia. Inherited as a dominant trait. Due to mutation (change) in one of the genes encoding proteins of the red cell membrane skeleton. In 1956 Newton Morton brilliantly showed that there were at least 2 forms of elliptocytosis, one form unlinked to the Rh blood group and another form linked to Rh (now known to be on chromosome 1). The Rh-linked form, (EL1) in chromosome region 1p34.2-p33 is due to a mutation in erythrocyte membrane protein 4.1. Forms of elliptocytosis not linked to Rh are due to mutations in the alpha-spectrin gene, the beta-spectrin gene, or the band 3 gene.