Results 61 to 70 of about 140,652 (287)

β-thalassemia mutations identified among 2,555 at-risk couples for β-thalassemia diseases including β⁰- thalassemia (2,479 alleles) and β⁺-thalassemia (224 alleles) and unknown (24 alleles).

, 2023
β-thalassemia mutations identified among 2,555 at-risk couples for β-thalassemia diseases including β0- thalassemia (2,479 alleles) and β+-thalassemia (224 alleles) and unknown (24 alleles).
Supawadee Yamsri (15295465), Attawut Chaibunruang (15295468), Kanokwan Sanchaisuriya (632577), Supan Fucharoen (632578), Hataichanok Srivorakun (632574), Kritsada Singha (632575), Goonnapa Fucharoen (632576)   +6 more
core   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source

Thalassemia [PDF]

Canadian Medical Association Journal, 2020
Hayley, Merkeley, Lauren, Bolster
openaire   +2 more sources

Heterozygous Beta‐Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions

Prenatal Diagnosis, EarlyView.
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij, Frans J. W. Smiers, Tamara T. Koopmann, Ingrid Krapels, Kaatje LePoole, Enrico Lopriore, Johanna M. Middeldorp, Claudia S. Ootjers, Volkher Scharnhorst, Hubertina C. J. Scheepers, Cornelis L. Harteveld, E. J. T. (Joanne) Verweij   +11 more
wiley   +1 more source

Management of the Thalassemias [PDF]

Cold Spring Harbor Perspectives in Medicine, 2013
During the last 30 years, in addition to the considerable progress made in control and prevention of thalassemias(3), there have also been major advances in their symptomatic management, at least in wealthier countries where appropriate facilities are available.
Nancy F, Olivieri, Gary M, Brittenham
openaire   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Curcumin Therapy Reduces Iron Overload and Oxidative Stress in Beta-Thalassemia: Findings from a Meta-Analytic Study

The risk of anemia and iron overload is a global concern in beta (β)-thalassemia. The β-thalassemia primary treatment includes blood transfusion and iron chelation therapy; however, both are associated with risks such as anemia, iron depletion,
Perpetua Modjadji, Kabelo Mokgalaboni, Wendy N. Phoswa, Sogolo L. Lebelo   +3 more
core   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

PB2240: SILENT GLOBIN MUTATIONS. 10 YEARS REFERRALS FOR GENETIC COUNSELING.

HemaSphere, 2022
S. Theodoridou, A. Teli, E. Boutou, E.-E. Delaki, E. Yfanti, V. Efthimia, E. Zarkada, A. Balassopoulou   +7 more
doaj   +1 more source

Evaluation of immunophenotypic markers and clinico-hematological profile in chronic lymphocytic leukemia: implications for prognosis

BMC Research Notes, 2020
Objective Chronic lymphocytic leukemia (CLL) is an adult leukemia presented with clonal accumulation of lymphocytes. Immunophenotypic changes can be effective in predicting clinical course, the survival of patients, and determining first-line treatment ...
Marziye Bagheri, Tina Vosoughi, Mehran Hosseinzadeh, Najmaldin Saki   +3 more
doaj   +1 more source