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Beta-thalassemia [PDF]

Genetics in Medicine, 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. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10 ...
Galanello R, ORIGA, RAFFAELLA
exaly   +8 more sources

Current status of beta‐thalassemia and its treatment strategies

Molecular Genetics & Genomic Medicine, 2021
Background Thalassemia is an inherited hematological disorder categorized by a decrease or absence of one or more of the globin chains synthesis. Beta‐thalassemia is caused by one or more mutations in the beta‐globin gene.
Shaukat Ali, Muhammad Khan, Hafiz Muhammad Tahir   +2 more
exaly   +2 more sources

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, Laila M Youseff, Ramadan A Mahmoud, Mahmoud I Elbadry, Ahmed Tawfeek, Shereen P Aziz   +5 more
doaj   +1 more source

Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual

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, Bijan keikhaei, Hamid Galehdari, Alihossein Saberi, Alireza Sedaghat, Gholamreza Shariati, Marziye Mohammadi‐Anaei   +6 more
doaj   +1 more source

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   +7 more sources

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, Hossein Ali Adineh, Iraj Zareban, Mehdi Mohammadi, Mahtab Maghsoodlu   +4 more
doaj   +1 more source

Thalassemia

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

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, Hasan Karagecili, Mustafa Oguzhan Kaya   +2 more
doaj   +1 more source

Varied clinical presentation of compound heterozygous thalassemia with delta beta or hereditary persistence of foetal hemoglobin

Pediatric Hematology Oncology Journal, 2023
Introduction: Delta-beta thalassemia and hereditary persistence of fetal hemoglobin (HPFH) results from a deletion in both the delta and beta genes on chromosome 11.
Sneha Waghela, Sujata Sharma, Nikita Shah, Harshada Uchil, Radha Ghildiyal   +4 more
doaj   +1 more source

BETA THALASSEMIA

The Professional Medical Journal, 2018
Background: Inadequate Blood Transfusion is responsible for various problemsin children with Thalasseima. On the other hand, repeated transfusions are related with hazards.About 25-50% of the children with thalassemia major have impaired glucose tolerance (IGT)or diabetes.
Iqbal Ahmed, Muhammad Ammar Sadiq, Umair Arshad, Hafiz Muhammad Anwar ul Haq, Sobia Tabassum, Arshia Sabir, Muhammad Ejaz ul Haq   +6 more
openaire   +3 more sources