Results 81 to 90 of about 920,848 (226)

Hepcidin is suppressed by erythropoiesis in hemoglobin E β-thalassemia and β-thalassemia trait.

, 2014
HbE β-thalassemia is the most common severe thalassemia syndrome across Asia, and millions are carriers. Clinical heterogeneity in HbE β-thalassemia is incompletely explained by genotype, and the interaction of phenotypic variation with hepcidin is ...
Drakesmith, Hal, Webster, C, Premawardhena, Anuja, Allen, Angela, Sturges, P, Olivieri, Nancy F, Drakesmith, H, St Pierre, T, Wray, K, Porter, John B, Bandara, D, Pasricha, Sant-Rayn, Porter, JB, Fisher, Chris A, Armitage, Andrew E, Evans, P, Olivieri, NF, Armitage, AE, Weatherall, David J, Weatherall, DJ, Evans, Patricia, Sturges, Pamela, Bandara, Dyananda, Jones, Emma, Webster, Craig, Premawardhena, A, Jones, E, Allen, A, Perera, A, Perera, Ashok, Pasricha, SR, Fisher, CA, Wray, Katherine, St Pierre, Timothy   +33 more
core   +1 more source

Prevalence of orofacial changes in patients with β-thalassemia major in Karbala City, Iraq [PDF]

, 2014
Objectives: The aim of this study was to investigate findings of oral abnormalities or changes in these patients, and compare it to healthy control subjects.
Muhanned Salah Abulsattar, Ali Mihsen Al-Yassiri   +1 more
core   +2 more sources

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity

BMC Medical Genetics, 2010
Background The clinical syndrome of thalassemia intermedia (TI) results from the β-globin genotypes in combination with factors to produce fetal haemoglobin (HbF) and/or co-inheritance of α-thalassemia.
Sun Manna, Zhou Tianhong, Li Liyan, Cai Ren, Shang Xuan, Zhang Xinhua, Chen Wanqun, Xiong Fu, Xu Xiangmin   +8 more
doaj   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow‐Up of the Fetuses

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives Partial gene duplications (PGDups) are a significant contributor to genetic disease. The precise genomic location and structure of PGDups are often unresolved using conventional methods, so prenatal diagnosis for PGDups is challenging, especially without ultrasound abnormalities.
Shengfang Qin, Xueyan Wang, Mengjia Yan, Yuxia He, Zhuo Zhang, Yan Yin, Jin Wang, Beibei Guo, Jing Wang, Na Xi, Zhaokai Li   +10 more
wiley   +1 more source

Clinical Insights: Prevalence of β-Thalassemia Mutations (IVSI-5, FSC8/9, and CD41/42) in the Swat District

Journal of Bio-X Research
Background: Thalassemia is a prevalent condition characterized by decreased production or absence of hemoglobin globin chains. There are 2 types of thalassemia, alpha thalassemia and beta thalassemia (β-thalassemia), classified according to defects in ...
Sumaia Saif, Shah Lila, Gulalai Ghani, Murad Ali Rahat, Akhtar Rasool, Muhammad Israr   +5 more
doaj   +1 more source

β-thalassemia major evolution from β-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15

Haematologica, 2008
β-thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene.
Jan-Gowth Chang, Wen-Chan Tsai, Inn-Wen Chong, Chao-Sung Chang, Chyi-Chang Lin, Ta-Chih Liu   +5 more
doaj   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

A Population-Oriented Genetic Scoring System to Predict Phenotype: A Pathway to Personalized Medicine in Iraqis With β-Thalassemia

To assess the roles of genetic modifiers in Iraqi β-thalassemia patients, and determine whether a genotype-based scoring system could be used to predict phenotype, a total of 224 Iraqi patients with molecularly characterized homozygous or compound ...
Regir K Sadullah (18015372), Adil Abozaid Eissa (18015375), Sulav D Atroshi (18015369), Shatha Qadir (18015378), Shaima Al-Zebari (16730631), Dilan Khalil (18015381), Nasir Al-Allawi (3095073), Gernot Kriegshäuser (5680346), Christian Oberkanins (18015384)   +8 more
core   +1 more source