Results 111 to 120 of about 216,468 (292)

Red blood cell membrane proteome as a reporter of disease severity, transfusion impact and genetic background in transfusion‐dependent β‐thalassaemia

open access: yesBritish Journal of Haematology, EarlyView.
Summary Omics technologies have transformed research in haemoglobinopathies, yet the proteome of RBCs remains largely unexplored in transfusion‐dependent thalassaemia (TDT). In this proteomic analysis, Red blood cell (RBC) membranes from 48 adults with TDT were compared with healthy controls.
Konstantina Theocharaki   +8 more
wiley   +1 more source

Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report

open access: yesJournal of Medical Case Reports, 2018
Background Posterior reversible encephalopathy syndrome is a neurotoxic condition that occurs as a result of the failure of posterior circulatory autoregulation in response to acute changes in blood pressure.
Ehab Hanafy   +5 more
doaj   +1 more source

Duodenal perforation: an unusual complication of sickle cell anemia

open access: yesThe Pan African Medical Journal, 2014
Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history.
Can Acıpayam   +5 more
doaj   +1 more source

Sickle cell anemia: An update on diagnosis, management and prevention strategies

open access: yesIndian Journal of Community and Family Medicine, 2018
Sickle cell anemia is the most common disease entity of all the monogenic disorders. This is an autosomal recessive disorder. HbS polymerization, vaso-occlusion, and hemolytic anemia are central to the pathophysiology of sickle cell disease, they ...
Shruti Mishra, Gaurav Chhabra
doaj   +1 more source

A genetic risk score based on BCL11A and HBS1L‐MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients

open access: yesBritish Journal of Haematology, EarlyView.
Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo   +13 more
wiley   +1 more source

Distal renal tubular acidosis in sickle cell anemia

open access: yesSaudi Journal of Kidney Diseases and Transplantation, 2018
We report a rare case of two young male siblings with sickle cell anemia who presented with bilateral lower limb deformities, failure to thrive, polyuria, and polydipsia.
Anjali Bharani   +3 more
doaj   +1 more source

Longitudinal Analysis of Sleep‐Disordered Breathing and Cognitive Outcomes in Children Living With Sickle Cell Anaemia

open access: yesClinical Otolaryngology, EarlyView.
ABSTRACT Objectives Sleep‐disordered breathing (SDB) and cognitive challenges are commonly observed in children living with sickle cell anaemia (SCA). This study investigated the longitudinal change in polysomnographic outcomes and the association with cognitive functions in children living with SCA.
Shifa Hamdule   +5 more
wiley   +1 more source

Sexuality and sickle cell anemia

open access: yesRevista Brasileira de Hematologia e Hemoterapia, 2013
BACKGROUND: Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia.
Viviane de Almeida Côbo   +4 more
doaj  

Association between hemolysis and albuminuria in adults with sickle cell anemia

open access: yesHaematologica, 2012
Studies have questioned whether renal dysfunction in sickle cell disease is linked to hemolysis-associated vasculopathy. We have investigated renal function and markers of hemolysis in a cohort of 424 adult African-British patients with sickle cell ...
Thomas G. Day   +4 more
doaj   +1 more source

Academic and cerebrovascular outcomes after neurodevelopmental screening in sickle cell disease: A longitudinal cohort study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Neurodevelopmental screening in toddlers or preschoolers with sickle cell disease (SCD) predicts future academic deficits. Screening sensitivity for future academic deficits is highest in preschoolers with SCD. Brief neurodevelopmental screening tools can identify high risk children for early intervention. Abstract Aim To assess the predictive validity
Sarah E. Bills   +5 more
wiley   +1 more source

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