IDENTIFICATION OF THE HEREDITARY PYROPOIKILOCYTOSIS CARRIER STATE

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  • 1 January 1984
    • journal article
    • research article
    • Vol. 63  (6) , 1439-1446
Abstract
The hematologic, rheologic and biochemical features of erythrocytes obtained from 10 relatives of a 5-yr-old black female with hereditary pyropoikilocytosis (HPP) and severe hemolytic anemia. Erythrocyte morphology was normal in the father and 5 other relatives, but ghost mechanical fragility and drug-induced red cell endocytosis were increased, as was the percentage of spectrin dimers noted on 3.2% nondenaturing PAGE [polyacrylamide gel electrophoresis] of spectrin extracts. Identical changes were also noted in the mother and her sister, whose erythroctyes were elliptocytic and exhibited morphological changes on heating to 45.degree.-48.degree. C (normal 49.degree.). The 2 other family members were normal in every respect. SDS[sodium dodecyl sulfate]-PAGE analysis of membrane proteins demonstrated diminished amounts of spectrin in HPP erythrocytes, but was normal in other family members. A diffuse band (MW 575,000-665,000), composed entirely of spectrin, was apparent adjacent to the dimer region on nondenaturing PAGE of spectrin extracts from the propositus, mother and aunt. In this family, HPP appears to have resulted from compound heterozygosity for 2 distinct genetic abnormalities (reflected by the differences between elliptocytic and nonelliptocytic carriers). Although the membrane abnormalities in carriers did not result in hemolytic anemia, they were of sufficient magnitude to allow the detection of the carrier state.