Results 81 to 90 of about 138,095 (212)

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

open access: yes, 2018
Chanchai Traivaree,1 Chalinee Monsereenusorn,1 Piya Rujkijyanont,1 Warakorn Prasertsin,2 Boonchai Boonyawat3 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand; 2Department of ...
Rujkijyanont P   +4 more
core  

β-Thalassemias

open access: yesNew England Journal of Medicine, 2021
Ali T, Taher   +2 more
openaire   +6 more sources

Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome

open access: yesFrontiers in Genetics
Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure (BMF) syndrome characterized by erythroid aplasia, congenital malformations, and cancer predisposition.
Panayiota L. Papasavva   +7 more
doaj   +1 more source

Lived experiences of Iranian parents of beta-thalassemia children

open access: yes, 2017
Aziz Shahraki-vahed,1 Mohammadreza Firouzkouhi,1 Abdolghani Abdollahimohammad,1 Jamile Ghalgaie2 1Department of Medical Surgical, Faculty of Nursing and Midwifery, Zabol University of Medical Science, Zabol, Iran; 2Emam Khomeni Hospital, Zabol University
Shahraki-vahed A   +3 more
core  

The long-term efficacy and tolerability of oral deferasirox for patients with transfusion-dependent beta-thalassemia in Taiwan

open access: yes, 2017
Deferasirox is a novel once-daily, oral iron chelator. The aim of this study was to evaluate the long-term efficacy and tolerability of deferasirox in Taiwanese patients with transfusion-dependent beta-thalassemia who have been treated with deferasirox ...
Chang, Hsiu-Hao;Lu, Meng-Yao;Peng, Steven Shinn-Forng;Yang, Yung-Li;Lin, Dong-Tsamn;Jou, Shiann-Tarng;Lin, Kai-Hsin   +1 more
core   +1 more source

Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia

open access: yes, 2004
Hemoglobin (Hb) A production during red blood cell development is coordinated to minimize the deleterious effects of free α- and β-Hb subunits, which are unstable and cytotoxic.
Weiss, MJ (15531407)   +11 more
core  

Growth Failure in Thalassemia Major Patients in Samples of Iraqi Patients [PDF]

open access: yes
Introduction: Thalassemia, a hereditary autosomal recessive blood disorder, arises from genetic abnormalities leading to a diminished synthesis rate of one of the globin chains constituting hemoglobin.
Shaima’A Dakhel ABDULHASSAN
core   +2 more sources

GENETIC DISORDERS OF RED CELL GLYCOLYSIS : A REVIEW FROM THE MOLECULAR TO CLINICAL AND THERAPEUTIC APROACHES

open access: yesMediterranean Journal of Hematology and Infectious Diseases, 2014
The erythrocyte, devoid of nucleus, mitochondria,ribosomes and other organelles, has no capacity for cell replication, protein synthesis, or oxidative phosphorylation.
SOPHIA DELICOU   +5 more
doaj  

Factors associated with continuing emergence of β-thalassemia major despite prenatal testing: a cross-sectional survey

open access: yes, 2017
Haleama Al Sabbah,1 Sarah Khan,1 Abdallah Hamadna,2 Lamia Abu Ghazaleh,2 Anwar Dudin,2 Bashar Adnan Karmi3 1College of Natural and Health Sciences, Zayed University, Dubai, UAE; 2Faculty of Medicine, An-Najah National University, Nablus, Palestine ...
Al Sabbah H   +5 more
core  

Co-inheritance of --MED double gene deletion and αααAnti3.7 triplication on α-globin gene in Mazandaran at 2016

open access: yesResearch in Molecular Medicine, 2017
Alpha Thalassemia is one of the most prevalent disorders worldwide with a [T1] high carrier rate in Mazandaran province (north of Iran). Carriers of --MED double gene deletion are at risk of having a child with hemoglobin  haemoglobin[T2] 
Hossein Jalali   +3 more
doaj  

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