Overhydrated stomatocytosis is a rare disorder associated with erythrocyte membrane permeability to monovalent cations.
Pathogenesis: monovalent cation leak (ammonia)
Mechanism: amino acid substitutions (Phe65Ser; Ile61Arg) in Rh-associated glycoprotein (RHAG)
Chromosome: 6p12.3
Inheritance: autosomal dominant. less often de novo
Presentation:
(1) familial hemolytic anemia
(2) variable jaundice
(3) variable hepatosplenomegaly
(4) thrombosis after splenectomy
Laboratory findings:
(1) stomatocytosis
(2) negative antiglobulin test
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Specialty: Hematology Oncology, Clinical Laboratory
