Hereditary Pyropoikilocytosis

03/01/2022 - "However, in hereditary pyropoikilocytosis (HPP), the severe clinical form of HE, the morphological diagnosis is difficult due to the presence of a RBC morphological picture characterized by a mixture of elliptocytes, spherocytes, tear-drop cells, and fragmented cells. "
07/01/2008 - "We assessed the fluorescence profiles for patients having HS and hereditary pyropoikilocytosis (HPP) together with their red cell indices. "
03/01/2003 - "Its aggravated form, hereditary pyropoikilocytosis (HPP), implies that the skeleton undergoes further destabilization. "
07/01/1989 - "5) In his pedigree, neither patients with hereditary pyropoikilocytosis (HPP) nor carrier states were recognized. "
09/01/1987 - "Twenty-nine subjects had common HE, 13 subjects have a closely related disorder, hereditary pyropoikilocytosis (HPP), and 14 are asymptomatic carriers. "

10/08/2022 - "Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis."
10/01/2017 - "Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis."
12/15/2005 - "A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred."
09/01/1993 - "Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis."
10/01/1988 - "Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis."

04/01/2011 - "Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins."
03/01/1983 - "We will then describe how the experimental technology developed to study the normal membrane skeleton has paved the way for the recent identification of alterations of skeletal protein interactions in hereditary spherocytosis, hereditary elliptocytosis, and hereditary pyropoikilocytosis. "
10/01/2016 - "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). "
08/01/1996 - "Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are inherited disorders of erythrocyte shape that are frequently associated with abnormalities in alpha-spectrin, one of the principal structural proteins of the erythrocyte membrane skeleton. "

09/01/1991 - "Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide."
06/01/1984 - "These atypical peptide patterns were similar to those previously reported in two variants of hereditary pyropoikilocytosis (HPP), which also had defective self-association of spectrin. "
08/15/1989 - "Limited tryptic digestion of spectrin (Sp) from seven related individuals manifesting hereditary elliptocytosis (HE) or hereditary pyropoikilocytosis (HPP) phenotypes revealed the presence of a novel peptide with a molecular weight of 78 Kd and a concomitant decrease in the alpha I domain (80-Kd peptide), which is the domain involved in the dimer self-association process. "

01/01/1991 - "A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis."
12/01/2013 - "α Spectrin mRNA was mildly decreased in all hereditary elliptocytosis subjects, whereas both hereditary pyropoikilocytosis propositi had a severe decrease to ~10% of normal. "

09/01/1980 - "These methods of analysis were applied to cells from patients with hereditary spherocytosis, hereditary pyropoikilocytosis, and hemoglobin CC disease to define the basis of reduced deformability. "
11/01/2020 - "Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. "

11/29/2023 - "Hereditary pyropoikilocytosis (HPP) is a heterogeneous inherited disorder of red blood cell (RBC) membrane and cytoskeletal proteins that leads to hemolytic anemia. "
11/15/2022 - "Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP) are clinically and genetically heterogeneous red cell membranopathies that result from the defects in the horizontal linkage between RBC (red blood cell) membrane and cytoskeletal proteins affecting its mechanical stability and deformability thereby reducing its lifespan. "

03/01/1987 - "Without added 2,3-DPG, ghost mechanical stability was subnormal in infantile poikilocytosis (IP) and HE but was even more abnormal in hereditary pyropoikilocytosis (HPP). "

11/01/2008 - "Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis."

07/01/2012 - "After the evaluation, 4 children were diagnosed with Diamond Blackfan anaemia, 3 were diagnosed with hereditary spherocytosis, and one each with hereditary pyropoikilocytosis, congenital sideroblastic anaemia, congenital thrombotic thrombocytopenic purpura, transient erythroblastopenia of childhood, and autoimmune myelofibrosis associated with human immunodeficiency virus infection. "

10/01/2018 - "Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes."
06/01/2008 - "Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis."

06/11/2009 - "Here we use quantum dots to image the diffusion of individual band 3 molecules in the plasma membranes of intact human erythrocytes from healthy volunteers and patients with defects in one of their membrane components, leading to well-known red cell pathologies (hereditary spherocytosis, hereditary elliptocytosis, hereditary hydrocytosis, Southeast Asian ovalocytosis, and hereditary pyropoikilocytosis). "