Results 21 to 30 of about 1,010,620 (323)

Effects of blood transfusion on exercise capacity in thalassemia major patients [PDF]

, 2015
Anemia has an important role in exercise performance. However, the direct link between rapid changes of hemoglobin and exercise performance is still unknown.To find out more on this topic, we studied 18 beta-thalassemia major patients free of relevant ...
Agostoni, P, Aguglia, Do, Benedetto, D, Benedetto, Fa, Cattadori, G, Cefalù, C, D'Ascola, Dg, Rao, Cm, Sciomer, Susanna   +8 more
core   +5 more sources

Beta Thalassemia: New Therapeutic Options Beyond Transfusion and Iron Chelation

Drugs, 2020
Hemoglobinopathies are among the most common monogenic diseases worldwide. Approximately 1–5% of the global population are carriers for a genetic thalassemia mutation.
I. Motta, R. Bou-Fakhredin, A. Taher, M. Cappellini   +3 more
semanticscholar   +1 more source

Determination of mutations in iron regulating genes of beta thalassemia major patients of Khyber Pakhtunkhwa, Pakistan

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, Lubna Danish, Najeeb U. Khan, Fakhar Zaman, Muhammad Ismail, Mehfooz Hussain, Ruqiya Pervaiz, Aqib Iqbal   +7 more
doaj   +1 more source

SKRINING THALASSEMIA BETA MINOR PADA MAHASISWA FAKULTAS KEDOKTERAN UNIVERSITAS SRIWIJAYA

Jurnal Kedokteran dan Kesehatan, 2021
Berdasarkan data dari World Health Organization (WHO) tahun 2001, terdapat 7% populasi di seluruh dunia yang merupakan karier thalassemia atau penderita thalassemia minor. Di Indonesia, frekuensinya pun cukup tinggi yaitu 3-10%.
Medina Athiah, Safyudin Safyudin, Liniyanti Daniel Oswari   +2 more
doaj   +1 more source

Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings

Frontiers in Medicine, 2020
A number of beta-thalassemia patients, independently from the type of beta-thalassemia (β0 or β+) and blood transfusion requirements, may develop, after puberty, dermal, cardiovascular, and ocular complications associated with an ectopic mineralization ...
F. Boraldi, F. Lofaro, Sónia Costa, Pasquale Moscarelli, D. Quaglino   +4 more
semanticscholar   +1 more source

The impact of iron deficiency on the diagnostic level of HbA2 in beta- thalassemia trait from the Sulaimani hemoglobinopathies screening program.

Advanced Medical Journal, 2022
Background and objectives: The identification of carriers of beta- thalassemia depends on the detection of a high level of hemoglobin A2. The hemoglobin A2 level is influenced by some elements including iron.
Awaz Ahmed Kamal Shalli, Sana Dlawar Jalal, Dler Jaza Mohammed   +2 more
doaj   +1 more source

Luspatercept for Transfusion-Dependent Beta-Thalassemia: Real-World Experience in a Large Cohort of Patients From Italy. [PDF]

Am J Hematol
American Journal of Hematology, Volume 100, Issue 9, Page 1651-1655, September 2025.
Origa R, Gianesin B, Zappu A, Denotti AR, Di Giorgio MA, Sciortino R, Motta I, Panzieri DL, Rosso R, Bulla A, Culcasi M, Pasanisi AM, De Franceschi L, Di Maggio R, Pinto VM, Sanna PMG, Ricchi P, Ruffo GB, Schieppati F, Roberti D, Ferrero GB, De Michele E, Arcioni F, Fotzi I, Marktel S, Poloni A, Soverini G, Testa ER, Cabiddu G, Fortugno C, Gigante A, Polese F, Rapezzi D, Sau A, Forni GL, Cappellini MD, Longo F.   +36 more
europepmc   +2 more sources

TyG index and insulin resistance in beta-thalassemia [PDF]

, 2015
Insulin resistance (IR) underlies some glucose metabolism abnormalities in thalassemia major. Recently, triglyceride glucose index (TyG) has been proposed for evaluating insulin resistance as a simple, low cost, and accessible tool.
Fayaz, M., Hosseini, S.M., Jamshir, M., Mirbehbahani, N.   +3 more
core   +1 more source

Alpha and beta-Thalassemia mutations in Hubei area of China

BMC Medical Genetics, 2020
BackgroundThalassemia is a group of inherited hemoglobic disorders resulting from defectsin the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China.
Yao-wu Zhu, N. Shen, Xiong Wang, Juan Xiao, Yanjun Lu   +4 more
semanticscholar   +1 more source

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   +4 more sources