Results 41 to 50 of about 2,781 (251)

Rapid, Affordable and Efficient Screening of Multiple Blood Abnormalities Made Possible Using an Automated Tool for MALDI-ToF Spectrometry Analysis

Applied Sciences, 2019
Screening programs for genetic and metabolic diseases such as haemoglobinopathies, thalassemias and diabetes are a worldwide problem that faces economic and technological limitations.
Ricardo J. Pais, Christian Jardine, Raminta Zmuidinaite, Jonathan Lacey, Steve Butler, Ray Iles   +5 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Interação entre Hb C [beta6(A3)Glu>Lys] e IVS II-654 (C>T) beta-talassemia no Brasil Hb C [beta6(A3)Glu>Lys] and IVS II - 654 (C>T) beta thalassemia interaction in Brazil

Revista Brasileira de Hematologia e Hemoterapia, 2003
Thalassemias are a heterogeneous group of inherited disorders characterized by a microcytic hypochromic anemia and an imbalance in the synthesis of the globin-chains. Hb C is the second most frequently variant of hemoglobin found in Brazil.
Claudia R. Bonini-Domingos, Ana C. Bonini-Domingos, Ana R. Chinelato, Paula J. A. Zamaro, Patrícia H. O. Calderan   +4 more
doaj   +1 more source

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

IRON METABOLISM IN THALASSEMIA AND SICKLE CELL DISEASE

Mediterranean Journal of Hematology and Infectious Diseases, 2009
There are two main mechanisms by which iron overload develops in thalassemias: increased iron absorption due to ineffective erythropoiesis and blood transfusions.
Raffaella Mariani, Paola Trombini, Matteo Pozzi, Alberto Piperno   +3 more
doaj   +1 more source

Nano‐networks via reaction‐induced self‐assembly coordinate spatiotemporal multi‐drug delivery for acute kidney injury therapy

BMEMat, EarlyView.
Multifunctional nano‐networks (NNWs) are prepared via reaction‐induced self‐assembly (RISA) of spermidine (SPD), epigallocatechin gallate (EGCG), 2‐formylphenylboronic acid (2‐FPBA), and deferoxamine (DFO) through dynamic iminoboronate bonds. These NNWs leverage the oxidative AKI microenvironment to trigger disintegration, enabling site‐specific ...
Juan Jin, Xiao Zhang, Chenxi Wang, Taian Jin, Xinyang Fang, Yixuan Gao, Mengchun Chen, Weiyang Meng, Chang Gao, Wenlu Li, Yuanfeng Li, Yijie Chen, Calvin A. Omolo, Thirumala Govender, Linqi Shi, Yunguang Wang, Yong Liu, Qiang He   +17 more
wiley   +1 more source

Hemoglobin A2 Cut off Values in Egyptian Cohort as a marker of β -Thalassemia carriers. [PDF]

Journal of Bioscience and Applied Research, 2015
Beta thalassemias (β-thalassemias) are a group of inherited blood disorders caused by reduced or absent synthesis of beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals.
Noura Kablan, Manal El Hamshary, Ghada Nasr, Mohamed Hamza, Tarif Salam, Alaa Hemeida   +5 more
doaj   +1 more source

Thalassemia [PDF]

Canadian Medical Association Journal, 2020
Hayley, Merkeley, Lauren, Bolster
openaire   +2 more sources

Maternal and neonatal outcomes in Gaza amid armed hostilities in 2025

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study documents facility‐based maternal, obstetric, and neonatal outcomes and associated conflict‐related exposures and living conditions among pregnancy‐related encounters at Al‐Helou Maternity Hospital in Gaza from late April to early September 2025, with a small number of additional encounters recorded at Al‐Shifa Medical ...
Shaymaa Abuhaiba, Younis Elijla, Aya El‐Dadah, Othman Nassar, Meran Abu‐Sultan, Maysaa Almasry, Hebatallah Alkhatib, Mahmoud Alsady, Amir Mahdi Ghafarian, Muath Alsarafandi, Lina Abumughessib, Arham Ali, Yassar Arain, Abeerah Muhammad, Belal Aldabbour, Shayan Ali, Bilal Irfan   +16 more
wiley   +1 more source

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

Journal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade, Mahsa Kiani Bigdeli, Seyed Sajad Eghbali, Mohammadtaghi Ghiyasi, Roz Rastgoo, Mohammad Javad Mousavi   +5 more
wiley   +1 more source