Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis |
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Authors: | Marie-Christine Lecomte D. Dhermy M. Garbarz C. Feo Huguette Gautero Odile Bournier Christiane Picat Isabelle Chaveroche Anna Ester Colette Galand P. Boivin |
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Affiliation: | (1) Laboratoire d'Enzymologie des Cellules Sanguines (INSERM U160), Hôpital Beaujon, F-92118 Clichy Cédex, France;(2) Institut de Pathologie Cellulaire, INSERM U48, Hôpital de Bicêtre, 94 Le Kremlin Bicêtre, France;(3) Laboratori d'Hematologia, Hospital Clinic I Provincial de Barcelona, Spain |
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Abstract: | Summary Five patients with hereditary elliptocytosis (HE) from two unrelated black families were studied. The patients had prominent elliptocytosis and a decreased erythrocyte resistance to heat treatment. In one infant blood smears showed elliptocytosis and poikilocytosis; his erythrocytes fagmented at a lower temperature than those of his mother and sister, both having typical mild HE. Defective dimer-dimer association was present in all patients. Limited tryptic digestion of spectrin and subsequent analysis by one-and two-dimensional electrophoresis revealed a similar and reproducible decrease in the 80,000-dalton peptide (I domain) and the comcomitant appearance of a 46,000-dalton peptide. All the patients had the polymorphism of the spectrin II domain commonly observed in black populations. In addition, modifications relative to the III domain were detected; similar variants were found in one black control subject out of 136 and are likely related to a genetic polymorphism of the III domain. No differences were observed between the peptide patterns in the infant with poikilocytosis and those of his HE sister and mother. |
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