Identification of the hereditary pyropoikilocytosis carrier state
WC Mentzer, T Turetsky, N Mohandas, S Schrier, CS Wu and H Koenig
We evaluated 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 five 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 of spectrin extracts. Identical changes were also noted
in the mother and her sister, whose erythrocytes were elliptocytic and
exhibited morphological changes upon heating to 45 degrees-48 degrees C
(normal 49 degrees). The two other family members were normal in every
respect. SDS-PAGE analysis of membrane proteins demonstrated diminished
amounts of spectrin in HPP erythrocytes, but was normal in other family
members. A diffuse band (mol wt 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 two 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.
Volume 63,
Issue 6,
pp. 1439-1446,
06/01/1984
Copyright © 1984 by The American Society of Hematology
