Results 91 to 100 of about 102,550 (297)

PB2541: RARE CAP +41 TO +44 [HBB:C.11_-8DELAAAC]/NI MUTATION IN THE 5;UTR OF THE Β GLOBIN GENE IN A GREEK MALE AND GENETIC COUNSELING.

HemaSphere, 2023
Stamatia Theodoridou, Evaggelia-Eleni Delaki, Eleni Yfanti, Aikaterini Teli, Genovefa Mantzou, Christina Karipidou, Maria Dimopoulou   +6 more
doaj   +1 more source

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]

, 2012
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core   +1 more source

The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]

, 2015
Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M, Campo-Fernandez, Beatriz, Cooper, Aaron R, Hoban, Megan D, Hollis, Roger P, Kaufman, Michael L, Kohn, Donald B, Lumaquin, Dianne, Romero, Zulema, Senadheera, Shantha, Urbinati, Fabrizia, Wang, Xiaoyan, Wherley, Jennifer   +12 more
core   +4 more sources

Understanding erythroid physiology and pathology in humanized mice: A closer look

British Journal of Haematology, Volume 206, Issue 5, Page 1272-1284, May 2025.
Erythropoiesis, the formation of red blood cells (RBCs) from haematopoietic stem cells (HSCs), is vital for understanding conditions like anaemia and haemoglobinopathies. However, studying this process in vivo is challenging due to the lack of accurate models.
Lu Lu, Chenfei Liu, Lezong Chen, Xumiao Zhang, Yinglin Su, Zhenzhen Chou, Yang Liang, Yuanbin Song   +7 more
wiley   +1 more source

Safety and efficacy of blood exchange transfusion for priapism complicating sickle cell disease. [PDF]

, 2016
BACKGROUND: Priapism is unwanted painful penile erection that affects about 36% of boys and men with sickle cell disease (SCD) most of whom have sickle cell anemia. Clinically, priapism could be stuttering, minor, or major.
Adeyoju, Ayache, Ballas, Ballas, Baron, Betke, Charache, Eckman, Emond, Harms, Janes, Mantadakis, Okpala, Powars, Rackoff, Rogers, Seeler, Serjeant, Serjeant, Sharpsteen, Siegel, Talacki, Teixeira, US Department of Health and Human Services   +23 more
core   +2 more sources

Thalassemia [PDF]

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

How I treat iron‐refractory iron deficiency anaemia—An expert opinion‐based treatment guidance for children and adults

British Journal of Haematology, Volume 206, Issue 4, Page 1067-1076, April 2025.
In iron‐refractory iron deficiency anaemia, inappropriately elevated hepcidin levels impair enteral iron absorption and iron release from macrophages by interacting with ferroportin. Oral iron supplements (containing ~30 mg Fe2+ per 100 mg) are generally ineffective due to this hepcidin–ferroportin interaction although, in some cases, this can be ...
V. Hoving, A. E. Donker, S. E. M. Schols, D. W. Swinkels   +3 more
wiley   +1 more source

Factors Related to Reduced Bone Density in β-Thalassemia Major Patients: Mazandaran Thalassemia Registry [PDF]

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2023
Introduction: OsteoPenia and osteoPorosis are known to be one of the main comPlications of β-thalassemia major (β-TM). The aim of this study was to determine the factors associated with decreased bone density of these Patients.
Hossein Karami, Mehrnoush Kosaryan, Mohammad Naderisorki, Fatemeh esfandiari, Mobin Ghazaiean, Aily Aliasgharian, Hanie Fallah, Salameh Shakeri, Hadi Darvishi-Khezri   +8 more
doaj  

Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies [PDF]

, 2010
Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities.
Balgir, RS
core   +1 more source

Long‐term efficacy and safety of mitapivat in non‐transfusion‐dependent α‐ or β‐thalassaemia: An open‐label phase 2 study

British Journal of Haematology, EarlyView.
Mitapivat is an oral activator of pyruvate kinase (PK), the enzyme responsible for the final step in glycolysis, and increases production of adenosine triphosphate (ATP), which may lead to improvements in red blood cell health, ineffective erythropoiesis and haemolysis.
Kevin H. M. Kuo, D. Mark Layton, Ashutosh Lal, Elliott P. Vichinsky, Jayme L. Dahlin, Shihao Shen, Gavrielle M. Price, Keely S. Gilroy, Jeremie H. Estepp, Hanny Al‐Samkari   +9 more
wiley   +1 more source