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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 ...
G. Kato, F. Piel, C. Reid, M. Gaston, K. Ohene‐Frempong, L. Krishnamurti, Wally R. Smith, J. Panepinto, D. Weatherall, F. Costa, E. Vichinsky   +10 more
semanticscholar   +7 more sources

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.
F. Piel, M. Steinberg, D. Rees
semanticscholar   +15 more sources

Ex vivo prime editing of patient haematopoietic stem cells rescues sickle-cell disease phenotypes after engraftment in mice

Nature Biomedical Engineering, 2023
Prime editing can efficiently correct the sickle-cell allele to produce wild-type haemoglobin in patient haematopoietic stem cells that engraft efficiently in mice, yielding erythrocytes resistant to hypoxia-induced sickling. Sickle-cell disease (SCD) is
Kelcee A. Everette, Gregory A. Newby, Rachel M. Levine, Kalin Mayberry, YoonJeong Jang, Thiyagaraj Mayuranathan, Nikitha Nimmagadda, Erin Dempsey, Yichao Li, S. Bhoopalan, Xiong Liu, Jessie R. Davis, Andrew T. Nelson, Peter J. Chen, Alexander A. Sousa, Yong Cheng, J. Tisdale, M. Weiss, Jonathan S. Yen, David R. Liu   +19 more
semanticscholar   +1 more source

CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters to Treat Sickle Cell Disease.

New England Journal of Medicine, 2023
BACKGROUND Sickle cell disease is caused by a defect in the β-globin subunit of adult hemoglobin. Sickle hemoglobin polymerizes under hypoxic conditions, producing deformed red cells that hemolyze and cause vaso-occlusion that results in progressive ...
Akshay Sharma, J. Boelens, M. Cancio, J. Hankins, P. Bhad, Marjohn Azizy, Andrew Lewandowski, Xiaojun Zhao, Shripad D. Chitnis, Radhika Peddinti, Yan Zheng, N. Kapoor, Fabio Ciceri, Timothy Maclachlan, Yi Yang, Yi Liu, Jianping Yuan, Ulrike Naumann, V. Yu, S. Stevenson, S. De Vita, J. LaBelle   +21 more
semanticscholar   +1 more source

Advances in the diagnosis and treatment of sickle cell disease

Journal of Hematology & Oncology, 2022
Sickle cell disease (SCD), which affects approximately 100,000 individuals in the USA and more than 3 million worldwide, is caused by mutations in the βb globin gene that result in sickle hemoglobin production.
A. Brandow, R. Liem
semanticscholar   +1 more source

Lifetime medical costs attributable to sickle cell disease among nonelderly individuals with commercial insurance

Blood Advances, 2022
Key Points • The nonelderly lifetime burden of total medical costs attributable to sickle cell disease was $1.7 million.• Patients incurred $44 000 in out-of-pocket costs due to sickle cell disease over their nonelderly lifetimes.
Kate M. Johnson, B. Jiao, Scott D. Ramsey, M. Bender, B. Devine, A. Basu   +5 more
semanticscholar   +1 more source

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

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

BMC 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, Agnes Jonathan, William Lloyd, Upendo Masamu, Emanuela Marco, Julie Makani, Paschal Ruggajo, Benson R. Kidenya, Irene K. Minja, Emmanuel Balandya   +9 more
doaj   +1 more source

Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease.

New England Journal of Medicine, 2021
BACKGROUND Sickle cell disease is characterized by the painful recurrence of vaso-occlusive events. Gene therapy with the use of LentiGlobin for sickle cell disease (bb1111; lovotibeglogene autotemcel) consists of autologous transplantation of ...
J. Kanter, M. Walters, L. Krishnamurti, M. Mapara, J. Kwiatkowski, Stacey Rifkin-Zenenberg, B. Aygun, K. Kasow, F. J. Pierciey, M. Bonner, Alexandra L. Miller, Xinyan Zhang, Jessie Lynch, Dennis Kim, J. Ribeil, M. Asmal, S. Goyal, A. Thompson, J. Tisdale   +18 more
semanticscholar   +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