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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]

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. 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
openaire   +5 more sources

Prevalence of Inherited Hemoglobin Disorders and Relationships with Anemia and Micronutrient Status among Children in Yaoundé and Douala, Cameroon. [PDF]

, 2017
Information on the etiology of anemia is necessary to design effective anemia control programs. Our objective was to measure the prevalence of inherited hemoglobin disorders (IHD) in a representative sample of children in urban Cameroon, and examine the ...
Brown, Kenneth H, Engle-Stone, Reina, Gimou, Marie-Madeleine, Green, Ralph, Nankap, Martin, Ndjebayi, Alex, Oyono, Yannick, Tarini, Ann, Williams, Thomas N   +8 more
core   +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. The thalassemias can be classified as alpha or beta thalassemias.
Tekin Aksu, Sule Unal
openaire   +4 more sources

Thalassemia ENDOCRINOPATHIES IN THALASSEMIA PATIENTS

PAFMJ, 2021
Objective: To determine the common endocrine complications found in children having thalassemia major. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatric Medicine, Combined Military Hospital Multan, from May to Nov 2019. Methodology: A total of 160 Children with thalassemia were taken in this ...
Umer Touheed, Samra Maryam, Hafiz Muhammad Murtaza, Muhammad Mujtaba Sabir, Lutfullah Goheer, Aamir Aslam Awan   +5 more
openaire   +3 more sources

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]

, 2017
Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Chondrou, Vasiliki, Kolovos, Petros, Sgourou, Argyro, Kourakli, Alexandra, Pavlidaki, Alexia, Kastrinou, Vlasia, John, Anne, Symeonidis, Argiris, Ali, Bassam R., Papachatzopoulou, Adamantia, Katsila, Theodora, Patrinos, George P.   +11 more
core   +4 more sources

The α-Thalassemias [PDF]

New England Journal of Medicine, 2014
More than 100 varieties of α-thalassemia have been identified. Their geographic distribution and the challenges associated with screening, diagnosis, and management suggest that α-thalassemias should have a higher priority on global public health agendas.
Longo, DL, Piel, FB, Weatherall, DJ
openaire   +5 more sources

Thalassemia

Hematology, 2012
Thalassemia is the most common form of inherited anemia worldwide. The World Health Organization reports suggest that about 60,000 infants are born with a major thalassemia every year. Although individuals originating from the tropical belt are most at risk, it is a growing global health problem due to extensive population migrations. Despite important
openaire   +5 more sources

Nutritional status of young children with inherited blood disorders in western Kenya. [PDF]

, 2014
To determine the association between a range of inherited blood disorders and indicators of poor nutrition, we analyzed data from a population-based, cross-sectional survey of 882 children 6–35 months of age in western Kenya.
Ruth, LJ, Suchdev, PS, Sullivan, KM, Tsang, BL, Williams, TN   +4 more
core   +1 more source

Thalassemias: An Overview [PDF]

International Journal of Neonatal Screening, 2019
Thalassemia syndromes are among the most serious and common genetic conditions. They are indigenous in a wide but specific geographical area. However, through migration they are spreading across regions not previously affected. Thalassemias are caused by mutations in the α (HBA1/HBA2) and β globin (HBB) genes and are usually inherited in an autosomal ...
Michael Angastiniotis, Stephan Lobitz
openaire   +3 more sources