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+9 more
wiley +1 more source
Haleama Al Sabbah,1 Sarah Khan,1 Abdallah Hamadna,2 Lamia Abu Ghazaleh,2 Anwar Dudin,2 Bashar Adnan Karmi3 1College of Natural and Health Sciences, Zayed University, Dubai, UAE; 2Faculty of Medicine, An-Najah National University, Nablus, Palestine ...
Al Sabbah H+5 more
doaj
Case number 7 : Beta Thalassaemia Major with pulmonary hypertension [PDF]
Mr. IB, a 29-year-old gentleman, who is a known case of beta thalassemia major, was referred from the emergency department following an episode of lethargy, cough, exertional dyspnoea and dyspepsia.
Gauci, Gabriel, Schembri, Christian
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Bone Marrow and Peripheral Blood Globin Synthesis in an American Black Family With Beta Thalassemia [PDF]
Shlomo Friedman+2 more
openalex +1 more source
The role of red blood cell characteristics and viscosity in sickle cell retinopathy and maculopathy
Sickle cell retinopathy and maculopathy are common ocular complications of sickle cell disease. This study assessed the contribution of red blood cell characteristics and blood viscosity to their development. HbSC patients with proliferative retinopathy showed a lower delta elongation index and point of sickling, while no link was found between whole ...
Rajani P. Brandsen+8 more
wiley +1 more source
FREQUENCY OF BETA THALASSEMIA TRAIT AMONG THE HEALTHY INDIVIDUALS - A SINGLE CENTRE STUDY
Objective: To determine the frequency of beta thalassemia trait among the asymptomatic healthy individuals. Study Design: Cross sectional study. Place and Duration of Study: This was carried out at Pakistan Air Force (PAF) Hospital Lahore from ...
Muhammad Arif Sadiq+3 more
doaj
In Patients with Minor Beta-Thalassemia, Cognitive Performance Is Related to Length of Education, But not to Minor Beta-Thalassemia or Hemoglobin Levels [PDF]
Objective:; Thalassemia is one of the most frequent monogenic disorders, leading to impairment in the maturation and survival of red blood cells. The question examined here is whether, and if so, to what extent, people with beta-thalassemia might also be
Ahmadpanah, Mohammad+5 more
core
Genetic Implications of the Interaction of Two Types of Beta-Thalassemia Genes in a Patient With Thalassemia Major [PDF]
Giuseppe Russo+4 more
openalex +1 more source
Summary Patients with transfusion‐dependent thalassaemia (TDT) require chronic, life‐sustaining red blood cell transfusions, which contribute to iron overload and associated morbidity and mortality. Luspatercept, an inhibitor of the transforming growth factor‐beta pathway, decreases transfusion requirements in a subset of transfusion‐dependent β ...
Bianca Zaidel+2 more
wiley +1 more source
Deteksi Mutasi Langka, Delesi 619 Bp, Pada Gen Beta-Globin Dari Etnis Melayu Mahasiswa Fakultas Kedokteran Universitas YARSI [PDF]
Beta-thalassemia merupakan gangguan hematologis autosomal yang secara genetis mengakibatkan berkurangnya sintesis beta-globin di hemoglobin. Beta-talasemia sebagian besar disebabkan oleh mutasi titik, insersi atau delesi dalam gen beta-globin yang ...
Kenconoviyati, K. (Kenconoviyati)+4 more
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