Association of Red Cell Spherocytosis With Deletion of the Short Arm of Chromosome 8

• Published in: Blood 1987-01, Vol.69 (1), p.156-159
• Main Authors: Chilcote, Robert R., Beau, Michelle M.Le, Dampier, Carlton, Pergament, Eugene, Verlinsky, Yury, Mohandas, Narla, Frischer, Henri, Rowley, Janet D.
• Format: Article
• Language: English
• Subjects: Anemias. Hemoglobinopathies; Biological and medical sciences; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 8; Diseases of red blood cells; Erythrocyte Membrane - analysis; Glutathione - blood; Hematologic and hematopoietic diseases; Humans; Medical sciences; Membrane Lipids - blood; Membrane Proteins - blood; Osmotic Fragility; Spherocytosis, Hereditary - blood; Spherocytosis, Hereditary - genetics
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V69.1.156.156

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 sib lings 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.