Identification of the hereditary pyropoikilocytosis carrier state
نویسندگان
چکیده
منابع مشابه
Identification of the hereditary pyropoikilocytosis carrier state.
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 spectri...
متن کاملGenotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Th...
متن کاملMolecular Heterogeneity of Hereditary Pyropoikilocytosis : Identification of a Second Variant of the Spectrin a - Subunit
In hereditary pyropoikilocytosis (HPP). the red cell membrane skeletons exhibit a mechanical instability that can be correlated to defective self-association of spectrin heterodimers. To determine the underlying molecular defect. we have subjected HPP spectrin to limited tryptic digestion, followed by oneand two-dimensional separations of the peptides. Two of the HPP kindreds exhibited a marked...
متن کاملMolecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit.
In hereditary pyropoikilocytosis (HPP), the red cell membrane skeletons exhibit a mechanical instability that can be correlated to defective self-association of spectrin heterodimers. To determine the underlying molecular defect, we have subjected HPP spectrin to limited tryptic digestion, followed by one- and two-dimensional separations of the peptides. Two of the HPP kindreds exhibited a mark...
متن کاملMolecular basis of spectrin deficiency in hereditary pyropoikilocytosis.
Hereditary pyropoikilocytosis (HPP) is a recessively inherited hemolytic anemia characterized by severe poikilocytosis and red blood cell fragmentation. HPP red blood cells are partially deficient in spectrin and contain a mutant alpha or beta-spectrin that is defective in terms of spectrin self-association. Although the nature of the latter defect has been studied in considerable detail and ma...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Blood
سال: 1984
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v63.6.1439.1439