These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Hereditary stomatocytosis: membrane and metabolism studies.
    Author: Mentzer WC, Smith WB, Goldstone J, Shohet SB.
    Journal: Blood; 1975 Nov; 46(5):659-69. PubMed ID: 1174702.
    Abstract:
    A defect in the protein kinase-mediated phosphorylation of erythrocyte membrane proteins, previously unrecognized in stomatocytosis, was discovered in a boy with hereditary stomatocytosis and severe hemolytic anemia. The high-sodium, low-potassium erythrocytes of this patient were remarkably permeable to both sodium and potassium. The rate of ouabain-inhibitable active cation transport was more than ten times normal and was sustained by an increase of similar magnitude in glycolysis. The deformability in vitro of fresh stomatocytes was reduced and deteriorated further after a brief period of incubation with glucose. Ferrokinetic studies showed that these rigid cells were sequestered by the spleen. When stomatocytes were deprived of glucose in vitro, ATP depletion and ATPase cation pump failure rapidly ensued. Because of their permeability defect, such depleted cells rapidly became swollen and lysed. Prolonged entrapment in acidic, hypoglycemic regions of the spleen would recapitulate these unfavorable events in vivo. In this regard, splenectomy was followed by an improvement in erythrocyte survival, although evidence of continuing hemolysis was obtained.
    [Abstract] [Full Text] [Related] [New Search]