Results 91 to 100 of about 29,542 (277)

Renal involvement due to pigment casts in a patient with sickle cell disease, not everything is focal and segmental glomerulosclerosis

Nefrología (English Edition)
Sickle cell disease, is a genetic disorder caused by a mutation in the HBB gene, affecting the β-globin and resulting in the formation of sickle hemoglobin.
Lina M. Garzón, Edgar H. Dominguez, Nancy Janeth Vargas, Luz M. Mejía   +3 more
doaj   +3 more sources

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies. [PDF]

Hemasphere
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
de Montalembert M, Cappellini MD, Iolascon A, de Franceschi L, Ömur E, Abi Saad M, Andolfo I, Bento C, Berghs M, Bonnet D, Glenthoj A, Gulbis B, Dolai TK, Lima J, Motta I, Russo R, Taher A, Tshilolo L, Almeida A, Rees D.   +19 more
europepmc   +2 more sources

Fetal hemoglobin in sickle cell anemia

Blood, 2020
AbstractFetal hemoglobin (HbF) can blunt the pathophysiology, temper the clinical course, and offer prospects for curative therapy of sickle cell disease. This review focuses on (1) HbF quantitative trait loci and the geography of β-globin gene haplotypes, especially those found in the Middle East; (2) how HbF might differentially impact the ...
openaire   +3 more sources

Hair‐on‐end sign in severe sickle cell disease

British Journal of Haematology, EarlyView.
Raquel da Costa Neves, Joana Pais de Faria, Paula Kjöllerström   +2 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

ELEVATED MEAN CELL VOLUME IN SICKLE CELL ANAEMIA: ONE STORY, TOO MANY? [PDF]

Sanamed
Introduction: Sickle cell disease is a hereditary blood disorder characterized by defective hemoglobin. Red cell indices are proposed as potential tools for diagnosing and managing sickle cell disorders.
Jeremiah Zaccheaus, Alee Magnus
doaj   +1 more source

Integrating primary care for depression management during transition in sickle cell disease: A pre–post feasibility study

British Journal of Haematology, EarlyView.
Robert M. Cronin, Nives Quaye, Kristina Landes, Roberta Azbell, Sherraine Della‐Moretta, Regina D. Crawford, Chyongchiou J. Lin, Susan Creary, Patrick M. Schnell   +8 more
wiley   +1 more source

Seventh Åland Island Meeting on von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024. Aim The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.
Riitta Lassila, Ruben Bierings, Nathan T. Connell, Fernando F. Corrales‐Medina, Augusto B. Federici, Veronica H. Flood, Floor Heubel‐Moenen, Jill M. Johnsen, Geoffrey Kuppens, Davide Matino, Carolyn Millar, Ingmar Schoen, Anish Sharda, Robert F. Sidonio Jr, Alok Srivastava, Timea Szanto, Angela C. Weyand, Erik Berntorp   +17 more
wiley   +1 more source

Determining of the Hydroxyurea Effluence on TCD Parameters of Sickle Cell Patients

مجله دانشکده پزشکی اصفهان, 2009
Background: Sickle cell disease is the most common hemoglobinopathies that affect a specific intracellular protein named as hemoglobin. This disease has several clinical manifestations including, CNS involvement.
Nasser Sharafadinzadeh, Nastaran Majdinasb, Khodamorad Zandian, Keiwan Taherpoor, Armaghan Moravej Aleali, Mohamad Pipelzadeh   +5 more
doaj  

Ocular Complications in Adults with Sickle Cell Disease in Lagos – A Comparative Study

Nigerian Journal of Medicine
Introduction: Sickle cell disease has been associated with ocular complications in several studies. However, it has not often been compared with nonhemoglobinopathy controls.
Kuburat Oliyide, Olubanke Theodora Ilo, Olufemi Emmanuel Babalola, Tunji Adenekan, Michael Olufemi Kehinde, Aribaba Olufisayo Tade, Folasade Akinsola   +6 more
doaj   +1 more source