Results 41 to 50 of about 158,916 (259)

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. [PDF]

, 2013
The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines.
Arányi, Tamás, Bacquet, Caroline, Boussac, Hugues de, Fülöp, Krisztina, Pomozi, Viola, Váradi, András   +5 more
core   +1 more source

A Novel Plasma Heme Assay Reveals Disease Severity in Beta‐Thalassemia and Sickle Cell Anemia

American Journal of Hematology, EarlyView.
ABSTRACT Anemia results from imbalanced hemoglobin or red blood cell production and clearance. Hemolytic anemia, caused by premature red blood cell removal, can be intravascular (in blood) or extravascular (erythrophagocytosis). Hemolysis is common in Sickle Cell Disease (SCD) and Beta‐Thalassemia anemia (β‐thalassemia), the most prevalent inherited ...
Laurent Kiger, Nicolas Hebert, Laura Bencheikh, Vincent Malcor Deydier de Pierrefeu, Anne‐Laure Pham Hung d’Alexandry d’Orengiani, Sandia Adypagavane, Meghan Perkins, Laura Matabishi‐Bibi, France Pirenne, Claire Berquet, Stephane Moutereau, Serge Pissard, Frédéric Galactéros, Michael C. Marden, Pablo Bartolucci   +14 more
wiley   +1 more source

Identification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach

BMC Public Health, 2021
Background Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems.
Julia Z. Xu, Meghan Foe, Wilaslak Tanongsaksakul, Thidarat Suksangpleng, Supachai Ekwattanakit, Suchada Riolueang, Marilyn J. Telen, Bonnie N. Kaiser, Vip Viprakasit   +8 more
doaj   +1 more source

Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia

Biomedicines
The +33 C>G variant [NM_000518.5(HBB):c.-18C>G] in the 5′ untranslated region (UTR) of the β-globin gene is described in the literature as both mild and silent, while it causes a phenotype of thalassemia intermedia in the presence of a severe β ...
Coralea Stephanou, Miranda Petrou, Petros Kountouris, Christiana Makariou, Soteroula Christou, Michael Hadjigavriel, Marina Kleanthous, Thessalia Papasavva   +7 more
doaj   +1 more source

INHERITED BONE MARROW FAILURE SYNDROMES WITH PANCYTOPAENIA [PDF]

European Medical Journal Hematology, 2014
Bone marrow failure (BMF) is characterised by a reduction in the effective production of mature erythrocytes, granulocytes, and platelets by the bone marrow that leads to peripheral blood pancytopaenia.
Sophia Delicou, Marianna Bellia, Theoni Kanellopoulou, Chryssanthi Kontaxi, Apostolos Zografakis, Konstantinos Maragkos   +5 more
doaj  

Components of an effective large scale program for the prevention of inherited hemoglobin disorders; the paradigm of Greece

Thalassemia Reports, 2012
Large scale prevention programs for Thalassemia major or Sickle cell disease have already been set up in several places with high frequency of the deleterious genes.
D. Loukopoulos, E. Voskaridou, M. Tsalkani   +2 more
doaj   +1 more source

Feasibility of and barriers to thalassemia screening in migrant populations: a cross-sectional study of Myanmar and Cambodian migrants in Thailand

BMC Public Health, 2021
Background Thalassemia, an inherited hemoglobin disorder, has become a global public health problem due to population migration. Evidence-based strategies for thalassemia prevention in migrants are lacking.
Julia Z. Xu, Wilaslak Tanongsaksakul, Thidarat Suksangpleng, Supachai Ekwattanakit, Suchada Riolueang, Marilyn J. Telen, Vip Viprakasit   +6 more
doaj   +1 more source

The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]

, 2015
Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M, Campo-Fernandez, Beatriz, Cooper, Aaron R, Hoban, Megan D, Hollis, Roger P, Kaufman, Michael L, Kohn, Donald B, Lumaquin, Dianne, Romero, Zulema, Senadheera, Shantha, Urbinati, Fabrizia, Wang, Xiaoyan, Wherley, Jennifer   +12 more
core   +4 more sources

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

β-Thalassemia [PDF]

Genetics in Medicine, 2017
β-Thalassemia is caused by reduced (β+) or absent (β0) synthesis of the β-globin chains of hemoglobin. Three clinical and hematological conditions of increasing severity are recognized: the β-thalassemia carrier state, thalassemia intermedia, and thalassemia major, a severe transfusion-dependent anemia.
openaire   +3 more sources