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Sickle Cell Disease [PDF]

New 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
exaly   +21 more sources

Sickle cell disease [PDF]

Nature 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 ...
Gregory J, Kato, Frédéric B, Piel, Clarice D, Reid, Marilyn H, Gaston, Kwaku, Ohene-Frempong, Lakshmanan, Krishnamurti, Wally R, Smith, Julie A, Panepinto, David J, Weatherall, Fernando F, Costa, Elliott P, Vichinsky   +10 more
exaly   +8 more sources

Specifying sickle cell disease interventions: a study protocol of the Sickle Cell Disease Implementation Consortium (SCDIC) [PDF]

BMC Health Services Research, 2018
Background Sickle cell disease (SCD) is an inherited blood disorder that results in a lifetime of anemia, severe pain, and end-organ damage that can lead to premature mortality.
Ana A. Baumann, Steven H. Belle, Aimee James, Allison A. King, the Sickle Cell Disease Implementation Consortium   +4 more
doaj   +3 more sources

Sickle-cell disease

The Lancet, 2010
Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of this disease, although the importance of chronic anaemia, haemolysis, and vasculopathy has been established.
Rees, David C., Williams, Thomas N., Gladwin, Mark T.   +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

Anemia, 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, Clément Pacha Mikia, Jennifer Armandine Elira Samba, Jade Vanessa Nziengui Mboumba, Félix Malanda, Clausina Mikolele Ahoui, Alexis Elira Dokekias   +6 more
doaj   +1 more source

Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review

Hematology Reports, 2023
Hemoglobin (Hb) Agrinio is a rare non-deletional a-globin mutation observed almost exclusively in Greek, Spanish or other Mediterranean families. The clinical manifestations of a carrier of a single Hb Agrinio mutation (single heterozygosity) depend on ...
Michael D. Diamantidis, Stefania Pitsava, Omar Zayed, Ioanna Argyrakouli, Konstantinos Karapiperis, Christos Chatzoulis, Evangelos Alexiou, Achilles Manafas, Evangelos Tsangalas, Konstantinos Karakoussis   +9 more
doaj   +1 more source

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

eJHaem, 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, Marc Romana, Scylia Alexis‐Fardini, Vanessa Tarer, Pierre‐Marie Roger, Lydia Doumdo, Eléonore Petras, Corine Charneau, Benoit Tressières, Marie Dominique Hardy Dessources, Maryse Etienne‐Julan   +10 more
doaj   +1 more source

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

Thalassemia 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, Aikaterini Xydaki, Konstantinos Manganas, Emmanouil Koullias, Loukia Evliati, Chryssoula Kalkana, Michael D. Diamantidis, Achilles Manafas, Marianna Katsatou, Leonidas Roumpatis, Theodoros Aforozis   +10 more
doaj   +1 more source

Increased Prevalence of Alloimmunization in Sickle Cell Disease? Should We Restore Blood Donation in French Guiana?

Frontiers in Medicine, 2021
Patients with sickle cell disease often undergo frequent blood transfusions. This increases their exposure to red blood cell alloantigens of donor units, thus making it more likely that they produce alloantibodies.
Salomé Conrath, Vincent Vantilcke, Mickael Parisot, Françoise Maire, Pierre Selles, Narcisse Elenga, Narcisse Elenga   +6 more
doaj   +1 more source

Case Report of Myelodysplastic Syndrome in a Sickle-Cell Disease Patient Treated with Hydroxyurea and Literature Review

Biomedicines, 2022
The safety profile of hydroxyurea (HU) in patients with sickle-cell disease (SCD) is relatively well known. However, despite the suspected association of HU with myeloid neoplasms in myeloproliferative neoplasms (MPN), and the publication of sporadic ...
Pagona Flevari, Ersi Voskaridou, Frédéric Galactéros, Giovanna Cannas, Gylna Loko, Laure Joseph, Pablo Bartolucci, Justine Gellen-Dautremer, Emmanuelle Bernit, Corine Charneau, Anoosha Habibi   +10 more
doaj   +1 more source