Results 31 to 40 of about 3,937 (163)

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion

Case Reports in Neurological Medicine, 2016
The etiology of spinal cord infarcts (SCIs), besides being related to aortic perioperative events, in large subset of SCIs, remains cryptogenic.
Waqar Waheed, Anjali L. Varigonda, Chris E. Holmes, Christopher Trevino, Neil M. Borden, W. Pendlebury   +5 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis

Case Reports in Women's Health, 2017
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane.
Dawn M. Hannah, Terry B. Tressler, Claudia D. Taboada   +2 more
doaj   +1 more source

Exome sequencing for diagnosis of congenital hemolytic anemia

Orphanet Journal of Rare Diseases, 2020
Background Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In
Lamisse Mansour-Hendili, Abdelrazak Aissat, Bouchra Badaoui, Mehdi Sakka, Christine Gameiro, Valérie Ortonne, Orianne Wagner-Ballon, Serge Pissard, Véronique Picard, Khaldoun Ghazal, Michel Bahuau, Corinne Guitton, Ziad Mansour, Mylène Duplan, Arnaud Petit, Nathalie Costedoat-Chalumeau, Marc Michel, Pablo Bartolucci, Stéphane Moutereau, Benoît Funalot, Frédéric Galactéros   +20 more
doaj   +1 more source

Smartphone‐Based Teledentistry to Support Clinical Triage and Risk‐Informed Dental Care in Patients With Inherited Bleeding and Haemoglobin Disorders: A Cross‐Sectional Diagnostic Agreement Study

Haemophilia, EarlyView.
ABSTRACT Introduction Patients with inherited bleeding and haemoglobin disorders face barriers to accessing timely dental care, increasing the risk of untreated oral disease and complications related to invasive procedures. Aim To evaluate the agreement between smartphone‐based asynchronous teledentistry and face‐to‐face examination for oral conditions,
Victor Cordeiro da Silva, Carolina Mendes Frusca do Monte, Leandro Tavares da Silva, Gabriela Silva Almeida, Claudia Santos Lorenzato, José Vitor Nogara Borges de Menezes, Fabian Calixto Fraiz, Cassius Carvalho Torres‐Pereira   +7 more
wiley   +1 more source

Hereditary spherocytosis with successful splenectomy in a pregnant black South African lady: a case report

The Pan African Medical Journal, 2019
Hereditary spherocytosis is a rare cause of chronic haemolytic anaemia. It is rarer in the black population with extremely few cases reported. Initial assessment of a patient with suspected disease should include documenting clinical features of chronic ...
Khaled Elmezughi, Chukwuma Ekpebegh
doaj   +1 more source

Impact of Heat Block Drying on Morphologic Preservation and Staining of Peripheral Blood Smears

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Morphologic evaluation of the peripheral blood smear is critical for diagnosis and ruling out certain hematologic disorders. While air‐drying is standard, some laboratories may use heat blocks to expedite drying. Excessive heat may induce morphologic artifacts, but there is a lack of systematic literature on this practice ...
Ryan C. Shean, Nicolas Mavromatis, Gary Isom, Angie Turnbow, Lauren Pearson   +4 more
wiley   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, Volume 58, Issue 5, Page 1413-1444, September 2026.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Disorders of the erythrocyte membrane

Italian Journal of Medicine, 2015
Hemolytic anemia due to abnormalities of the erythrocyte membrane comprises an important group of inherited disorders. These include hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and the hereditary stomatocytosis ...
Sophia Delicou, Aikaterini Xydaki, Chryssanthi Kontaxi, Konstantinos Maragkos   +3 more
doaj   +1 more source