Results 81 to 90 of about 53,686 (285)

Oxidative stress and antioxidant status in beta-thalassemia heterozygotes

Revista Brasileira de Hematologia e Hemoterapia, 2013
Background: Several studies have evaluated the oxidant and antioxidant status of thalassemia patients but most focused mainly on the severe and intermediate states of the disease.
Luciana de Souza Ondei, Isabeth da Fonseca Estevao, Marina Ibelli Pereira Rocha, Sandro Percario, Doroteia Rossi Silva Souza, Marcela Augusta de Souza Pinhel, Claudia Regina Bonini-Domingos   +6 more
doaj   +1 more source

A validated cellular biobank for β-thalassemia [PDF]

, 2016
Background: Cellular biobanking is a key resource for collaborative networks planning to use same cells in studies aimed at solving a variety of biological and biomedical issues. This approach is of great importance in studies on β-thalassemia, since the
BIANCHI, Nicoletta, BORGATTI, Monica, BREDA, Laura, BREVEGLIERI, Giulia, Chiavilli, Francesco, COSENZA, Lucia Carmela, FINOTTI, Alessia, GAMBARI, Roberto, GAMBERINI, MARIA RITA, LAMPRONTI, Ilaria, Manunza, Laura, Martis, Franca Rosa, Moi, Paolo, Rivella, Stefano, Satta, Stefania, ZUCCATO, Cristina   +15 more
core   +2 more sources

Cas9 beyond CRISPR – SUMOylation, effector‐like potential and pathogenic adaptation

The FEBS Journal, EarlyView.
This Viewpoint explores the possibility that Cas9, beyond its canonical role in CRISPR immunity, may act as a host‐modulating effector during infection by Cas9‐encoding bacteria. Such a nucleomodulin‐like function could be influenced by eukaryotic post‐translational modifications, particularly SUMOylation, with potential implications for host–pathogen ...
Umut Sahin
wiley   +1 more source

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study

The Application of Clinical Genetics, 2014
Boonchai Boonyawat,1 Chalinee Monsereenusorn,2 Chanchai Traivaree2 1Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Division of Hematology/Oncology, Department of Pediatrics ...
Boonyawat B, Monsereenusorn C, Traivaree C   +2 more
doaj  

Quality of life among patients with beta-thalassemia major in Shahrekord city, Iran [PDF]

, 2016
Background and aims: Nowadays introduction of regular blood transfusion therapy has obviously improved the life expectancy of patients with thalassemia. However, these patients face with newer challenges which influence their quality of life (QoL).
Emadi Dehaghi, B., Mohammadi Farsani, S., Rasooli, L.   +2 more
core  

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

Identification of a Neonate with Thalassemia Intermedia Despite Premarital Screening Program in Mazandaran Province (Co-inheritance of Hb Knossos and IVS II-1 G> A Mutations)

Research in Molecular Medicine, 2017
Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin ...
Hossein Karami, Hossein Jalali, Mehrad Mahdavi, Mohammad Reza Mahdavi   +3 more
doaj  

Fuzzy-Based Fusion Model for β-Thalassemia Carriers Prediction Using Machine Learning Technique

Advances in Fuzzy Systems
The abnormality of haemoglobin in the human body is the fundamental cause of thalassemia disease. Thalassemia is considered a common genetic blood condition that has received extensive investigation in medical research globally.
Muhammad Ibrahim, Sagheer Abbas, Areej Fatima, Taher M. Ghazal, Muhammad Saleem, Meshal Alharbi, Fahad Mazaed Alotaibi, Muhammad Adnan Khan, Muhammad Waqas, Nouh Elmitwally   +9 more
doaj   +1 more source

GAMBARAN STATUS KARIES GIGI (INDEKS DMF-T) PADA PASIEN THALASEMIA BETA MAYOR DI RUMAH SAKIT UMUM DAERAH DR. ZAINOEL ABIDIN BANDA ACEH [PDF]

, 2017
ABSTRAKNama: Reka Oktiana DewiFakultas: Kedokteran GigiProgram Studi: Pendidikan Dokter GigiJudul Skripsi: Gambaran Status Karies Gigi pada Pasien Thalasemia Beta Mayor di Rumah Sakit Umum Daerah dr.
Reka Oktiana Dewi
core  

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source