Results 1 to 10 of about 30,419 (262)

Beta-thalassemia [PDF]

Orphanet Journal of Rare Diseases, 2010
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.
A Aessopos, A Aessopos, A Cao, A Ceci, A Gaudio, A Kattamis, A Mangiagli, A Mavrou, A Piga, AH Nassar, AT Taher, B Giardine, B Modell, B Wonke, BS Pace, C Borgna-Pignatti, C Borgna-Pignatti, C Borgna-Pignatti, C Borgna-Pignatti, C Borgna-Pignatti, C Borgna-Pignatti, C Borgna-Pignatti, C Vrettou, DJ Pennell, DT Kremastinos, E Angelucci, E Angelucci, E Economou-Petersen, EP Vichinsky, Exjade (deferasirox) Summary of product characteristics., F Locatelli, F Longo, FO Pinto, G La Nasa, G Puthenveetil, GM Brittenham, I Karydis, J Flint, J Gaziev, JC Wood, JP Villeneuve, K Balveer, K Farmaki, K Farmaki, K Farmaki, K Freson, KH Wu, KH Wu, LJ Anderson, LJ Anderson, LJ Anderson, M Bradai, M Porcu, M Sadelain, M Tsironi, M Uda, M Yavarian, MA Tanner, MA Tanner, MA Tanner, MC Sollaino, MD Cappellini, MD Cappellini, MG Orofino, MJ Cunningham, N Skordis, P Telfer, R Dresner Pollack, R Fischer, R Galanello, R Galanello, R Galanello, R Galanello, R Galanello, R Galanello, R Origa, R Origa, R Origa, R Origa, R Origa, Raffaella Origa, Renzo Galanello, S Perrotta, SL Thein, TG St Pierre, Thalassemia International Federation, THJ Huisman, V Alymara, V De Sanctis, V De Sanctis, V De Sanctis, V Gabutti, V Viprakasit, YM Lo   +93 more
core   +12 more sources

Theorizing Beta Thalassemia Major: an Overview of Health Sociology [PDF]

RIMCIS, 2020
This research focuses on specific models of health and illness, explored by many researchers across the world. The sequential variations and critic of each model is summed up by researcher and the relevant theoretical orientations of beta thalassemia ...
Abbasi, Saif-Ur-Rehman Saif, Rashid, Muhammad Abo ul Hassan   +1 more
core   +6 more sources

Brain perfusion changes in beta-thalassemia. [PDF]

Orphanet J Rare Dis
Abstract Background Brain injury in hereditary hemoglobinopathies is commonly attributed to anemia-related relative hypoperfusion in terms of impaired oxygen blood supply. Supratentorial and infratentorial vascular watershed regions seem to be especially vulnerable, but data are very scarce.
Manara R, Ponticorvo S, Contieri M, Canna A, Russo AG, Fedele MC, Rocco MC, Borriello A, Valeggia S, Pennisi M, De Angelis M, Roberti D, Cirillo M, di Salle F, Perrotta S, Esposito F, Tartaglione I.   +16 more
europepmc   +5 more sources

Genetic Study for Identifying Beta Thalassemia Trait in Relatives of Children with Beta Thalassemia Major. [PDF]

Cureus
The most common inherited illness, thalassemia, is thought to have a detrimental effect on public health, particularly in endemic areas. Children with beta thalassemia disease have several mutations. Prevention and premarital examination are still the most effective measures to lessen the burden of beta thalassemia.This study primarily aimed to ...
Elasheer OM, Radi SM, Khalaf MS, Ghazally MH, Nigm DA, Embaby MM.   +5 more
europepmc   +3 more sources

ANALYSIS OF MALONDIALDEHYDE LEVELS IN CHILDREN WITH BETA THALASSEMIA: A CROSS-SECTIONAL STUDY [PDF]

, 2023
Beta thalassemia is an autosomal recessive genetic condition affecting people worldwide, including in Indonesia. Malondialdehyde levels, a peroxidation product, can be used to see if there is an iron buildup in the body due to lifelong transfusions. This
Alasiry, Ema, Alaydrus, Syarifah Raehana Mardiah, Angriani, Hadia, L, Amiruddin, Ridha, Nadirah Rasyid, Satriono, Kwari Januar   +5 more
core   +1 more source

ANALYSIS OF VITAMIN D LEVELS IN CHILDREN WITH THALASSEMIA BETA [PDF]

, 2022
Background : Beta Thalassemia is a genetic disorder inherited by autosomal recessive and has spread throughout the world, including Indonesia. Beta thalassemia requires lifelong transfusions, which can cause an accumulation of iron in the skin, liver ...
Ganda, Idham Jaya, Gautama, Johan, Ridha, Nadirah Rasyid   +2 more
core   +1 more source

A Study on The Awareness of Consanguinity & Various Genetic Aspects Among the Parents of Children with Beta Thalassemia and To Understand the Usefulness of Various Indices in Identifying Beta Thalassemia Carriers in A Cohort of South Indian Patients [PDF]

, 2023
Background: Beta thalassemia is one of the common single gene disorders in India. Screening relies on High performance Liquid Chromatography (HPLC) / Hemoglobin electrophoresis.
Raj, Revathi, Ravichandran, Umarani, Suresh, Beena   +2 more
core   +2 more sources

How early can myocardial iron overload occur in Beta thalassemia major? [PDF]

, 2014
BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM.
A Aessopos, AM Maceira, AW Leung, B Modell, B Modell, B Modell, BA Davis, C Borgna-Pignatti, DH Fitchett, DJ Weatherall, DT Kremastinos, F Alpendurada, G Barosi, Gaohui Yang, GM Brittenham, GM Brittenham, HF Pan, Hongfei Pan, JC Wood, JC Wood, JC Wood, JL Fernandes, K Tziomalos, Liling Long, Lisa Anderson, LJ Anderson, LJ Anderson, M Angastiniotis, M Bejaoui, M Westwood, MA Aldouri, MA Tanner, MA Tanner, MA Tanner, MAEM Engle, NF Olivieri, P Kirk, Peng Peng, Q Meng, Rongrong Liu, Shaohong Tan, T He, Taigang He, V Positano, Weijia Yang, Xiaolei Xu, Xingjiang Long, Xinhua Zhang, Yong-rong Lai, Yongrong Lai   +49 more
core   +6 more sources

Beta Thalassemia [PDF]

, 2021
Beta thalassemia is a common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. This book covers most of the aspects related to this disease and greatly helps in understanding this disease and its complications.

core   +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).
Masakatsu UCHIHARA, Toshihiko NOUCHI, Teruo HARANO, Michio YAMANE, Hideki SAKAI, Kazuhiko TAKABE, Sunao MAE, Shinya MAEKAWA, Toshiko FUKUMA, Yasuhiro MIYAHARA, Chifumi SATO, Fumiaki MARUMO   +11 more
openaire   +4 more sources