Results 61 to 70 of about 39,247 (186)

Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels

Haematologica, 2003
BACKGROUND AND OBJECTIVES: Ferrokinetic studies and erythroid cell ultrastructural studies have indicated some degree of ineffective erythropoiesis in heterozygous beta-thalassemia, although a wide case-to-case variation was observed.
C Skarmoutsou, I Papassotiriou, J Traeger-Synodinos, H Stamou, V Ladis, A Metaxotou-Mavrommati, A Stamoulakatou, E Kanavakis   +7 more
doaj  

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

Dukungan Keluarga Dalam Merawat Anak Dengan Thalassemia Beta Mayor

Citra Delima, 2019
ABSTRAK Pendahuluan: Thalassemia merupakan penyakit anemia hemolitik yang diturunkan secara genetik. Indonesia termasuk salah satu Negara yang memiliki penduduk pembawa gena thalassemia dengan prevalensi sebesar 3-8%. Anak thalassemia beta mayor harus
Rezka Nurvinanda, Sri Mulatsih, Sri Hartini, Intansari Nurjannah   +3 more
doaj   +1 more source

Differentiating β‐Thalassaemia From Iron Deficiency: Performance and Cut‐Off Dependency of More Than 40 Red Cell Discrimination Indices in a Large German Cohort

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Since the 1970s, more than 40 red blood cell–based formulas have been proposed to differentiate β‐thalassaemia trait (BTT) from iron deficiency (ID) and iron deficiency anaemia (IDA), the main causes of microcytic anaemia. In Germany, where haemoglobinopathies are rare in the autochthonous population but increasingly encountered due
Rafid Al‐Nabhan, Dani Hakimeh, Lena Oevermann   +2 more
wiley   +1 more source

A retrospective analysis of the antigen‐negative red blood cell supply conducted at a single centre in China

Transfusion Medicine, EarlyView.
Abstract Objective This study aimed to analyse the distribution and demand patterns of antigen‐negative red blood cells (RBCs) in Shandong Province, China (2022–2024), with a focus on ABO blood groups and clinically significant antigens. The research was designed to provide rigorous data for advancing precision transfusion protocols and to establish a ...
Aiping Zhao, Xiujiao Jiang, Li An, Yuanfeng Chen, Weidong He, Qun Xu, Wenchao Li, Yingfang Pan   +7 more
wiley   +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, Volume 101, Issue 11, Page 2799-2811, November 2026.
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

Iron dysregulation in beta-thalassemia

Asian Pacific Journal of Tropical Medicine, 2016
Iron deficiency anemia and iron overload conditions affect more than one billion people worldwide. Iron homeostasis involves the regulation of cells that export iron into the plasma and cells that utilize or store iron. The cellular iron balance in humans is primarily mediated by the hepcidin-ferroportin axis.
Leecharoenkiat, Kamonlak, Lithanatudom, Pathrapol, Sornjai, Wannapa, Smith, Duncan R.   +3 more
openaire   +2 more sources

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2433-2442, November 2026.
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

The role of iron in normal and impaired testicular function

Andrology, Volume 14, Issue 8, Page 2373-2387, November 2026.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Beta-thalassemia [PDF]

, 2020
  +4 more sources