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Sickle cell disease [PDF]

open access: yesNature Reviews Disease Primers, 2018
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that ...
Frédéric B. Piel   +2 more
exaly   +8 more sources

Associated Factors of Cholelithiasis among Younger Children with Sickle Cell Disease at the National Reference Center for Sickle Cell Disease in Brazzaville, Congo

open access: yesAnemia, 2023
Introduction. Chronic hemolysis predisposes sickle cell patients to the development of gallstones. Their frequency increases with age, but they may appear early in young children.
Firmine Olivia Galiba Atipo Tsiba   +6 more
doaj   +1 more source

The efficacy of maternal health education and maternal screening on knowledge and the uptake of infant screening for sickle cell disease in Dar-Es-Salaam, Tanzania; a quasi experimental study

open access: yesBMC Public Health, 2023
Background Globally, Sickle cell disease (SCD) is one of the most common genetic disease with high childhood mortality. Early identification of babies with SCD through newborn screening (NBS) and linking them to care are among the recommended ...
Hilda J. Tutuba   +9 more
doaj   +1 more source

The Effect of COVID-19 on Hemoglobinopathy Patients’ Daily Lives While Quarantined: Four Greek Hospitals’ Experiences

open access: yesThalassemia Reports, 2022
During a pandemic, people are fearful of becoming infected with the virus, which causes anxiety, loss of purpose, and depression. This study aimed to evaluate the social and psychological impact, as well as the impact on homecare, of patients with ...
Sophia Delicou   +10 more
doaj   +1 more source

Sickle cell disease patients with COVID‐19 in Guadeloupe: Surprisingly favorable outcomes

open access: yeseJHaem, 2022
We investigate risk factors for hospitalization and difference between sickle cell syndromes in a cohort of COVID‐19 sickle cell disease (SCD) adult patients managed in the Reference Center of Guadeloupe.
Emmanuelle Bernit   +10 more
doaj   +1 more source

Patterns and patient factors associated with loss to follow-up in the Muhimbili sickle cell cohort, Tanzania

open access: yesBMC Health Services Research, 2020
Background Monitoring patient’s clinical attendance is a crucial means of improving retention in care and treatment programmes. Sickle cell patients’ outcomes are improved by participation in comprehensive care programmes, but these benefits cannot be ...
Upendo Masamu   +8 more
doaj   +1 more source

HIV-1 Tat phosphorylation on Ser-16 residue modulates HIV-1 transcription

open access: yesRetrovirology, 2018
Background HIV-1 transcription activator protein Tat is phosphorylated in vitro by CDK2 and DNA-PK on Ser-16 residue and by PKR on Tat Ser-46 residue. Here we analyzed Tat phosphorylation in cultured cells and its functionality. Results Mass spectrometry
Andrey Ivanov   +9 more
doaj   +1 more source

Sickle cells and sickle trait in thrombosis [PDF]

open access: yesBlood, 2019
The blood cells form a beautiful and elegant system. For a century, hematologists have comfortably understood that each type of blood cell has its own independent function in immunity, hemostasis, or oxygen transport, but in this issue of Blood, Faes and colleagues show that nature is far more efficient than that.
openaire   +2 more sources

Sickle Cell Disease [PDF]

open access: yesNew England Journal of Medicine, 2017
Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [HBB]) and that this number could rise to 400,000 by 2050.
Piel, FB, Steinberg, MH, Rees, DC
openaire   +12 more sources

Identification of the Rare, Four Repeat Allele of IL-4 Intron-3 VNTR Polymorphism in Indian Populations [PDF]

open access: yesIranian Journal of Immunology, 2016
Background: Cytokines are cell signaling molecules which upon release by cells facilitate the recruitment of immune-modulatory cells towards the sites of inflammation. Genetic variations in cytokine genes are shown to regulate their production and affect
Henu Kumar Verma   +4 more
doaj  

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