Results 31 to 40 of about 30,419 (262)

A Strategy analysis for genetic association studies with known inbreeding [PDF]

, 2011
Background: Association studies consist in identifying the genetic variants which are related to a specific disease through the use of statistical multiple hypothesis testing or segregation analysis in pedigrees.
Bertolino, Francesco, Biino, Ginevra, Cabras, Stefano, Castellanos, Maria Eugenia, Casula, Laura, Del Giacco, Stefano, Persico, Ivana, Pirastu, Mario, Pirastu, Nicola, Sassu, Alessandro   +9 more
core   +2 more sources

Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Delta-beta Thalassemia is a rare variant of thalassemia with elevated Hb F. Heterozygous and homozygous state of delta-beta thalassemia present with features similar to Hereditary Persistence of Fetal Haemoglobin (HPFH) and beta thalassemia ...
Varun Kumar Singh, Pavithra Prabhakar, Sushma Belurkar, Chethan Manohar   +3 more
doaj  

Evaluation of the levels of the markers of ineffective erythropoiesis (transforming growth factor-beta, growth differentiation factor 15 and erythropoietin) in patient with ß-thalassemia syndrome and its correlation to clinical and hematological parameters

Iraqi Journal of Hematology, 2022
BACKGROUND: Anemia of β thalassemia results from a combination of ineffective erythropoiesis and hemolysis. This stimulates erythropoietin (EPO) production, which causes expansion of the bone marrow and may lead to serious deformities of the skull and ...
May Hikmat Yousif, Hind Shaker Al-Mamoori   +1 more
doaj   +1 more source

Overview of Beta-Thalassemia

, 2023
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals. Three main forms have been described: thalassemia major, thalassemia intermedia, and thalassemia minor.
Oshiokhayamhe, Iyevhobu, Kenneth, Omolumen, Lucky E.,, Joseph, Okobi, Tobechukwu, Raphael, Usoro, Edidiong, A., refetalor Ivie,, A., Ken-Iyevhobu, Benedicta, Omokpo, Victoria, O.   +6 more
openaire   +2 more sources

Ferroportin and Erythroid Cells: An Update [PDF]

, 2010
In recent years there have been major advances in our knowledge of the regulation of iron metabolism that have had implications for understanding the pathophysiology of some human disorders like beta-thalassemia and other iron overload diseases. However,
Cianetti, Luciano, Gabbianelli, Marco, Sposi, Nadia Maria   +2 more
core   +3 more sources

Hepatocellular carcinoma in adult thalassemia patients: an expert opinion based on current evidence [PDF]

, 2020
Beta-thalassemia represents a heterogeneous group of haemoglobin inherited disorders, among the most common genetic diseases in the world, frequent in the Mediterranean basin.
Bellini D., Cillo U., Laghi A., Mangia A.   +3 more
core   +1 more source

Recent Cutting‐Edge Technologies for the Delivery of Peptide Nucleic Acid

Chemistry – A European Journal, EarlyView.
This review provides an overview of PNA cellular delivery methods, starting with traditional peptide‐based systems and progressing to advanced approaches using nanoparticles, liposomes, and calixarene. It highlights how these innovative strategies have opened the way for more effective and efficient PNA delivery, ultimately enhancing the potential for ...
Concetta Avitabile, Maria Teresa Cerasa, Antonia D'Aniello, Michele Saviano, Maria Moccia   +4 more
wiley   +1 more source

Effects of vitamin e and zinc supplementation on antioxidants in beta thalassemia major patients [PDF]

, 2011
Objective: In beta thalassemic patients, tissue damage occurs due to oxidative stress and it happens because of the accumulation of iron in the body. This study was conducted to determine the effect of zinc and vitamin E supplementation on antioxidant ...
Aboomardani, M., Arefhosseini, S.-R., Joshaghani, H., Keshtkar, A., Rafraf, M., Rashidi, M.   +5 more
core   +1 more source

Deferasirox Derivatives as Inhibitors of Kallikrein‐Related Peptidases Associated to Neurodegenerative Diseases

ChemMedChem, EarlyView.
Dysregulated proteolysis mediated by kallikrein‐related peptidases (KLKs) and iron overload are involved in the progression of neurodegenerative diseases. Deferasirox, an clinically‐approved iron chelator, and its newly synthesized derivatives have been identified as inhibitors of major central nervous system KLKs with low cytotoxicity and effective ...
Rilès Boumali, Elodie David, Nancy Chaaya, Morane Lucas, Sabrina Aït Amiri, Valérie Lefort, Anthony Nina‐Diogo, Michèle Salmain, Isabelle Petropoulos, Vincent Corcé, Chahrazade El Amri, Candice Botuha   +11 more
wiley   +1 more source

Serum ferritin and hematological indices in thalassemia minor and nontransfusion dependent hemoghlobinopathy

Iraqi Journal of Hematology, 2021
BACKGROUND: Iron deficiency is not common in thalassemia minor and nontransfusion dependent hemoglobinophaties. The majority of these patients have normal-to-high serum ferritin. OBJECTIVES: The aims of the study were to evaluate serum ferritin levels in
Mehdi Dehghani, Parisa Karimzadeh, Nazanin Azadeh, Alirea Rezvani, Ali Kashkooe   +4 more
doaj   +1 more source