Abstract
Congenital spherocytic anemia is a relatively common disorder but the genetic defect has not yet been definitively mapped to a chromosome. We studied a family in which 2 of 3 children were dysmorphic, affected by severe spherocytosis requiring intermittant transfusions, and showed deletion of a portion of the short arm of chromosome 8 (8p-). Both parents and the sibling were normal and showed no evidence of hemolysis or the deletion. Assays of carbonic anhydrase II, factor VII, thryroglobulin, and glutathione reductase, genes previously assigned to 8p were unremarkable. In order to elucidate the membrane defect, red cell membranes were electrophoresed using 1-D Fairbanks SDS polyacrylamide gels and a modified O'Farrell 2-D technique. Lipids were examined using thin-layer chromatography. Coomasie blue stained 1-D and silver stained 2-D electrophoretograms were normal; in particular members of the ternary binding complex, spectrin (α and β), band 4.1, and actin were normal as were membrane cholesterol and phospholipids. The association between the gene deletion and spherocytosis in the affected family members suggests that a gene for this defect lies on 8p, but does not affect the quantities of membrane proteins conventionally associated with rec cell membrane stability.
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Chilcote, R., Jones, B., Dampier, C. et al. DYSMORPHIC SYNDROME, SPHEROCYTOSIS AND PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 8. Pediatr Res 18 (Suppl 4), 220 (1984). https://doi.org/10.1203/00006450-198404001-00764
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DOI: https://doi.org/10.1203/00006450-198404001-00764