Results 71 to 80 of about 920,848 (226)

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source

Real-life experience with luspatercept in transfusion-dependent β-thalassemia

, 2023
β-Thalassemia is an autosomal recessive hemoglobinopathy characterized by the absence or reduction of β-globin chains synthesis [1]. Advancements in β-thalassemia therapy [2, 3] include emerging treatments like gene therapy [4, 5] and erythroid ...
Grande D., Longo M. C., Albano F., Roccotelli D., Vitucci A., Cicco G., Palma A., Musto P.   +7 more
core   +1 more source

Efficacy and safety of hydroxyurea therapy on patients with β-thalassemia: a systematic review and meta-analysis

Frontiers in Medicine
ObjectiveOur aim is to review the safety and efficacy of hydroxyurea (HU) on β-thalassemia patients.MethodsStudies that evaluated the safety and efficacy of HU on β-thalassemia patients were searched in Pub-Med, Cochrane Databases, Web of Science, China ...
Tianmin Huang, Huixian Jiang, Ganling Tang, Jingyi Li, Xiaoman Huang, Zhenguang Huang, Hongliang Zhang   +6 more
doaj   +1 more source

Long-term safety and erythroid response with luspatercept treatment in patients with β-thalassemia

Therapeutic Advances in Hematology, 2022
Background: β-thalassemia is a hereditary blood disorder resulting in ineffective erythropoiesis and anemia. Management of anemia with regular blood transfusions is associated with complications including iron overload.
Antonio Piga, Filomena Longo, Maria Rita Gamberini, Ersi Voskaridou, Paolo Ricchi, Vincenzo Caruso, Antonello Pietrangelo, Xiaosha Zhang, Jeevan K. Shetty, Kenneth M. Attie, Immacolata Tartaglione   +10 more
doaj   +1 more source

Factors Contributing to Improved Bone Mineral Density in Patients With Transfusion‐Dependent Thalassemia

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Advances in therapy have extended the life expectancy of patients with thalassemia to near that of the general population; complications such as endocrine disorders and osteoporosis remain prevalent. This study aimed to identify endocrine complications, factors associated with endocrine complications, and changes in bone mineral density (BMD ...
Cheng‐Ying Hsu, Hui‐Pin Hsiao, Shyh‐Shin Chiou, Pei‐Chin Lin, Yu‐Mei Liao, Wan‐Yi Hsu, Teng‐Hao Wang, Shuo‐Yu Wang   +7 more
wiley   +1 more source

A Database-Driven Website of β-Thalassemia Mutations [PDF]

, 2012
β-thalassemia is a genetic disease caused by mutations of the hemoglobin gene β (HBB). Over two hundred β-thalassemia mutations are known to date. While the pathological consequence of each β-thalassemia mutation has been well documented, the effect of a
Gaeke, Vanessa
core   +1 more source

Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia

, 2022
BACKGROUND: The frequency of the beta-thalassemia (β-thalassemia) gene in Indonesia ranges from 3 to 10%. However, in the East Java province, there is still limited information on the prevalence of β-thalassemia mutations in clinically diagnosed beta ...
Lesmana, Indra, Rahmawan, Prafa Alif, Indrasari, Yulia Nadar, Abdul Rahim, Nur Arzuar, Syafitri, Yuli, Rahim, Nur Arzuar Abdul, Moses, Emmanuel Jairaj, Yusoff, Narazah Mohd, Hernaningsih, Yetti, Andarsini, Mia Ratwita   +9 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

Case report: β-thalassemia major on the East African coast [PDF]

, 2022
Background: β-thalassemia is rare in sub-Saharan Africa and to our knowledge there has been no case of homozygous β-thalassemia major reported from this region.
Färnert, Anna, Thomas N. Williams, George Mochamah, Färnert, A,, Mochamah, G, Thad Howard, Mochamah, George, Williams, TN, Alexander W. Macharia, Mturi, N, Johnstone Makale, Howard, Thad, Ware, RE, Makale, Johnstone, Macharia, Alexander W, Anna Färnert, Ware, Russell E, Williams, Thomas N, Olupot-Olupot, Peter, Mturi, Neema, Neema Mturi, Olupot-Olupot, P, Peter Olupot-Olupot, Macharia, AW, Russell E. Ware, Makale, J, Howard, T   +26 more
core   +1 more source

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