Results 11 to 20 of about 39,247 (186)
Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR [PDF]
Frontiers in MedicineIntroductionTo evaluate the performance of digital polymerase chain reaction (dPCR) as a non-invasive prenatal test (NIPT) for assessing the risk of the fetus being affected by beta-thalassemia major and beta-thalassemia/Hb E disease.MethodsThis cross ...
Chalit Tangwerapornpong +7 more
doaj +2 more sources
Knowledge of Children and Adolescents with Beta Thalassemia Major about their Disease: An Assessment Study [PDF]
Egyptian Journal of Health Care, 2022 Background: Beta-thalassemia major is the most common hemoglobin disorder in the world. Assessing the knowledge of the children and adolescents regarding a beta- thalassemia major is important because helps to avoid complications.
Salma El Sayed Hassan +3 more
doaj +1 more source
Venous thromboembolism risk assessment among beta-thalassemia patients
Journal of Applied Hematology, 2023 BACKGROUND: Thromboembolic (TE) disorders are among the most common complications of beta-thalassemia. We designed this cross-sectional study to investigate the state of hypercoagulability and platelet activation in patients with beta-thalassemia ...
Hasnaa A Abo-Elwafa +5 more
doaj +1 more source
eJHaem, 2021 The genotype and phenotype correlation between coinheritance of heterozygous beta‐thalassemia with the alpha‐globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta‐thalassemia carriers, sickle
Mohammad Hamid +6 more
doaj +1 more source
The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran [PDF]
Epidemiology and Health, 2018 OBJECTIVES Thalassemia is a common genetic disease in Iran, especially in the north and south of Iran. The present study sought to determine the survival rate of patients with thalassemia in highly endemic regions of Iran and its variation in patients ...
Alireza Ansari-Moghaddam +4 more
doaj +1 more source
Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals
Medicine Science, 2020 Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya +2 more
doaj +1 more source
Trends in Pediatrics, 2021 Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia.
Tekin Aksu, Sule Unal
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Hepcidin and hemochromatosis (HFE) are iron regulatory proteins that are encoded by HAMP and HFE genes. Mutation in either HAMP gene or HFE gene causes Hepcidin protein deficiency that can lead to iron overload in beta thalassemia patients ...
Maryam Shah +7 more
doaj +1 more source
Celiac disease associated with beta thalassemia minor, coincidence or not: A case report [PDF]
Journal of Research in Clinical Medicine, 2019 Introduction: Celiac disease may be associated with a variety of autoimmune diseases such as glucose intolerance, autoimmune thyroid disorders, Sjogren’s syndrome, and untypically with hematological diseases such as beta-thalassemia minor.
Ali Ghavidel
doaj +1 more source
.BETA.+-Thalassemia with Hemochromatosis.
Internal Medicine, 1992 A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7 g/dl, mean corpuscular volume 82 fl, and ferritin 2,360 ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of beta-thalassemia was suggested by a decreased ratio of beta/alpha-globin synthesis in vitro (0.26).
UCHIHARA, Masakatsu +11 more
openaire +3 more sources