Results 51 to 60 of about 920,848 (226)

Pathomechanisms of Immunological Disturbances in β-Thalassemia

, 2021
Thalassemia, a chronic disease with chronic anemia, is caused by mutations in the β-globin gene, leading to reduced levels or complete deficiency of β-globin chain synthesis.
Anna Gluba-Brzózka, Magdalena Rysz-Górzyńska, Robert Rokicki, Beata Franczyk, Małgorzata Koziarska-Rościszewska, Jacek Rysz   +5 more
core   +1 more source

An overview of current treatment strategies for β-thalassemia [PDF]

, 2014
Introduction: At least 40,000 people per year worldwide are born with β-thalassemia. Patients with β-thalassemia major are reliant on regular red blood cell transfusions for survival from a young age. For those with β-thalassemia intermedia or hemoglobin
Cappellini, Maria Teresa, Taher, Ali T., Viprakasit, Vip   +2 more
core   +1 more source

HOPE Kids 2: Phase 3, Randomized Trial of Voxelotor in Children With SCD and Conditional Cerebral Blood Flow Velocities

American Journal of Hematology, EarlyView.
ABSTRACT Children with SCD have elevated stroke risk, correlated with cerebral blood flow velocity (CBFV). HOPE Kids 2 was a phase 3, multicenter, double‐blind, placebo‐controlled trial evaluating the effect of voxelotor on CBFV. Participants aged 2 to < 15 years with SCD (HbSS/HbSβ0) and conditional CBFV (170 to < 200 cm/s) were randomized 1:1 to ...
Halima Bello‐Manga, Shehu Umar Abdullahi, Hoda Hassab, Biobele Brown, Videlis Nduba, Jessie Githanga, Adeseye Michael Akinsete, Amal El‐Beshlawy, Diana Hanna, Catherine Segbefia, Iheanyi Okpala, Azza Tantawy, Bernhards Ogutu, Venée N. Tubman, Vivian Paintsil, Yasser Wali, Mohammed Essa, Paul Telfer, Sandy Dixon, Anne Hickman, Jennifer F. Doss, Mark W. Davis, Jeremy Rupon, Fenella J. Kirkham, R. Clark Brown, on behalf of the HOPE Kids 2 Investigators, Amal El‐Beshlawy, Mohamed Badr, Diana Hanna*, Hoda Hassab, Azza Tantawy, Vivian Paintsil, Catherine Segbefia, Raffaella Colombatti, Daniela Cuzzubbo, Silverio Perrotta, Jessie Githanga, Videlis Nduba, Bernhards Ogutu, Shehu Umar Abdullahi, Adeseye Michael Akinsete, Halima Bello‐Manga, Biobele Brown, Iheanyi Okpala, Yasser Wali, Mohammed Essa, Banu Kaya, Paul Telfer, Ofelia Alvarez, Natasha Archer, Shayla Bergmann, R Clark Brown, Andrew Campbell, Carlton Dampier*, Richard Hurwitz, Erin Jackson, Janet Kwiatkowski, Melissa M. McNaull*, Venée N. Tubman   +58 more
wiley   +1 more source

Chronic hyperplastic anemia as an independent risk factor for atherosclerotic lesions: a lesson from thalassemia intermedia [PDF]

, 2010
Introduction. Cardiovascular involvement represents a well-known complication and the primary cause of mortality, both in transfusion-dependent beta thalassemia major (β-TM) and in transfusion-independent beta thalassemia intermedia (β-TI ...
Pier Luigi Cocco, Alessandra Spiga, Fabrizio Angius, Stefania Vacquer, Maria Eliana Lai, Antonella Mandas, Maria Paola Carta, Sandra Dessi   +7 more
core  

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Clinical and Applied Thrombosis/Hemostasis, 2022
Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia.
Jiajia Xian MD, Yanchao Wang MD, Jianchun He MD, Shaoying Li MD, Wenzhi He MD, Xiaoyan Ma MD, Qing Li PhD   +6 more
doaj   +1 more source

The Presence and Percentage of Circulating Nucleated Red Blood Cells Reveal Distinct Characteristics in Adults With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Although circulating nucleated red blood cells (cNRBCs) have previously been detected in patients with sickle cell disease (SCD), their prevalence and clinical significance during steady‐state disease have not been established. We retrospectively analyzed 270 adults with an SS or Sβ0‐thalassemia genotype.
Ugo Boccadifuoco, Ivan Lerner, Auria Godard, Luc Darnige, Laure Joseph, Wassim El Nemer, Geoffrey Cheminet, Jean‐Benoit Arlet   +7 more
wiley   +1 more source

Multi-center transferability of a breath-hold T2 technique for myocardial iron assessment. [PDF]

, 2008
Background: Cardiac iron overload is the leading cause of death in thalassemia major and is usually assessed using myocardial T2* measurements. Recently a cardiovascular magnetic resonance (CMR) breath-hold T2 sequence has been developed as a possible ...
Tan, RS, Tan Ru, Chan, G.C.F, He, T, Fogel Mark A, Firmin David N, Au, W-Y, Pennell, Dudley J., Chan, GCF, Fogel, MA, Lam, W.M, Aydinok, Y, Chu, WCW, He, Taigang, Cohen, AR, Ng, I, Chu Winnie CW, Cohen, Alan R., Pennell, DJ, Pennell Dudley J, Firmin, D.N, Chu, W.C.W, Biceroglu, S, Fogel, M.A, Tan, R.S, Lam, WM, Chan Godfrey CF, Lam Wynnie M, Firmin, David N., Biceroglu Selen, Aydinok Yesim, Aydinok, Yesim, Firmin, DN, Kirk, Paul, Fogel, Mark A., Pennell, D.J, Ng Ivy, Kirk, P, Au, Wing-Yan, Tan, Ru San, Au, WY, He Taigang, Kirk Paul, Chan, GC, Biceroglu, Selen, Cohen, A.R, Au Wing-Yan, Chu, Winnie C. W., Chu, WC, Au, W.-Y, Lam, Wynnie M., Cohen Alan R, Ng, Ivy, Chan, Godfrey C. F.   +53 more
core   +1 more source

Differential expression and clinical significance of miR-124-3p in β-thalassemia [PDF]

Jichu yixue yu linchuang
Objective To investigate the differential expression of miR-124-3p in peripheral blood and clinical significance of patients with β-thalassemia. Methods Peripheral blood samples were collected from 33 patients with β-thalassemia and 30 healthy controls
CAO Luoyuan, DONG Wenxu, YANG Jing, GUO Liwen, LU Jiaojiao, ZHENG Xian, FU Xianguo
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)⁰-thalassemia

, 2018
Objective and importance: To verify the presence of β-thalassemia in subjects showing hematologic phenotype of α-thalassemia, conduct normal molecular sequence analysis of the α-globin genes, and detect the absence of the most frequent α-thalassemia ...
Clelia Scarano (2879918), Sabrina Dembech (2879921), Francesca Del Vecchio Blanco (2879915), Romeo Prezioso (697049), Giovanna Cardiero (697046), Giuseppina Lacerra (697054)   +5 more
core   +1 more source