Results 71 to 80 of about 7,739 (202)

Hereditary Spherocytosis [PDF]

Blood, 1951
Abstract Clinical, hematologic and genetic data on 28 cases of hereditary spherocytosis are presented for the purpose of characterizing this disorder as completely as possible. On the basis of this experience it is recommended that the following typical laboratory findings be sought in establishing a diagnosis in suspected cases: (1 ...
LAWRENCE E. YOUNG, MARY JANE IZZO, RICHARD F. PLATZER   +2 more
openaire   +1 more source

Immune‐Mediated Thrombocytopenia in an Ulcerative Colitis Patient After Initiating Filgotinib Treatment: A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Timeline of events ABSTRACT Moderate‐to‐severe ulcerative colitis can be effectively treated with JAK‐1 inhibition, but platelet counts should be closely monitored, especially in active disease. We confirmed immune‐mediated thrombocytopenia (ITP) in one of our patients after the initiation of filgotinib. Whether this was drug‐induced is uncertain.
M. J. van der Hoff, F. El‐Morabit, M. Löwenberg   +2 more
wiley   +1 more source

Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Hereditary anemias encompass a genetically heterogeneous spectrum of disorders, often involving multi‐locus inheritance, which can complicate clinical management and worsen disease severity. This study investigates the impact of the co‐inheritance of SEC23B loss‐of‐function pathogenic variants, which lead to congenital dyserythropoietic anemia
Antonella Nostroso, Roberta Marra, Barbara Eleni Rosato, Anthony Iscaro, Federica Maria Esposito, Vanessa D'Onofrio, Manuela Dionisi, Michela Ribersani, Francesca Giordano, Anna Bulla, Giovanni Carlo Del Vecchio, Saverio Scianguetta, Giorgia Mandrile, Teresa Ceglie, Olga Scudiero, Giovanni Battista Ferrero, Silverio Perrotta, Achille Iolascon, Immacolata Andolfo, Roberta Russo   +19 more
wiley   +1 more source

Hereditary spherocytosis: Retrospective evaluation of 65 children

The Turkish Journal of Pediatrics, 2018
Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children
Ali Güngör, Neşe Yaralı, Ali Fettah, İkbal Ok-Bozkaya, Namık Özbek, Abdurrahman Kara   +5 more
doaj   +1 more source

Hypomorphic ATP11c is a novel regulator of decreased efficacy of transfused red blood cells in humans and mice

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Chronic red blood cell (RBC) transfusion sustains patients with diverse hematologic disorders, but repeated transfusion leads to iron overload and alloimmunization. Reducing transfusion burden requires identifying donor units that circulate more effectively after storage, yet determinants of this variability remain incompletely defined.
James C. Zimring, Ariel M. Hay, Monika Dzieciatkowska, Daniel Stephenson, Zachary B. Haiman, Steven Kleinman, Philip J. Norris, Michael P. Busch, Nareg Roubinian, Elisa Fermo, Paola Bianchi, Gregory R. Keele, Grier P. Page, Angelo D'Alessandro   +13 more
wiley   +1 more source

Chromatin insulator elements: establishing barriers to set heterochromatin boundaries [PDF]

, 2012
Epigenomic profiling has revealed that substantial portions of genomes in higher eukaryotes are organized into extensive domains of transcriptionally repressive chromatin.
Adam G West, Faust, Gomos-Klein, Gráinne Barkess, Hadjur, Hawkins, Hebbes, Ortiz, Roseman, Scott   +9 more
core   +1 more source

Identification of Key Genes and Pathways Associated With Gender Differences in Pulmonary Arterial Hypertension Based on Bioinformatic Approaches

BioMed Research International, Volume 2026, Issue 1, 2026.
Pulmonary arterial hypertension (PAH) is a complex disease with multiple contributing factors. Epidemiological data showed that women are more susceptible to PAH, but they tend to have better right ventricular (RV) function and prognosis compared to men. The mechanisms behind these gender differences are not well understood.
Mohammad Panahi, Reyhaneh Kalhor, Mohammad-Hossein Mokhtarian, Fatemeh Javaheri Tehrani, Zinat Shams, Hourieh Kalhor, Hannah Wesley   +6 more
wiley   +1 more source

Association of hereditary elliptocytosis and Gilbert’s syndrome as the cause of biliary calculosis: Case report [PDF]

, 2011
Introduction. Biliary calculosis is rare in children. It occurs associated with different haemolytic and non-haemolytic disorders, which are sometimes also combined. Case Outline.
Brdar Radivoj, Dokmanović Lidija, Janić Dragana, Janić Nenad, Jovanović Miodrag, Leković Zoran, Radlović Nedeljko, Ristić Dragana, Smoljanić Željko   +8 more
core   +1 more source

Successful Treatment of Posttransplant Refractory Pure Red Cell Aplasia Following Parvovirus B19 Infection

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Pure red cell aplasia (PRCA), a rare cause of anemia limited to the erythroid lineage, is characterized by normocytic normochromic anemia, severe reticulocytopenia, and markedly reduced or absent erythroid precursors in the bone marrow. We report a 44‐year‐old male with end‐stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney ...
Yousef Ansara, Omar Marouf, Khalil Abualhumos, Mohammed AbuBaha, Hossam Salameh, Huda Saadeddin, Mohammad Al-Sheikh, Semonti Nandi   +7 more
wiley   +1 more source

A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis [PDF]

, 2017
Ankyrin defects are the most common cause of hereditary spherocytosis (HS). In some HS patients, mutations in the ankyrin promoter have been hypothesized to lead to decreased ankyrin mRNA synthesis.
Bodine, David M., Eber, Stephan W., Gallagher, Patrick G., Garrett-Beal, Lisa J., Nilson, Douglas G., Weisbein, Jessica L., Wong, Clara   +6 more
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