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RR Chilcote, MM Le Beau, C Dampier, E Pergament, Y Verlinsky, N Mohandas, H Frischer and JD Rowley
Congenital spherocytic anemia is a common disorder, but in most cases the
nature of the underlying membrane lesion is unknown and the genetic defect
has not yet been unequivocally mapped to a chromosome. We studied two
dysmorphic siblings with neurologic findings and hemolytic anemia. Clinical
and laboratory findings in these two siblings were consistent with the
diagnosis of congenital spherocytosis whereas both parents and two
unaffected siblings were normal. The two affected children had an abnormal
chromosomal complement as a result of a deletion of the short arm of
chromosome 8 [(46,XX,del(8)(p11.1p21.1)]. These results suggest that a gene
whose deletion results in a congenital spherocytic anemia phenotype resides
on this region on the short arm of chromosome 8.
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| Copyright © 1987 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||