Results 61 to 70 of about 4,949,451 (244)

Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran

open access: yesArmaghane Danesh Bimonthly Journal, 2022
Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams   +3 more
doaj  

Examination and Sampling of Chorionic Villi for the Diagnosis of Beta-Thalassemia Major in the First Trimester of Pregnancy in Southwestern Iran [PDF]

open access: yesArmaghane Danesh Bimonthly Journal, 2023
Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system.
E Shams   +3 more
doaj  

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang   +7 more
wiley   +1 more source

Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

open access: yes, 2023
Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels.
Kausik Mandal   +4 more
core   +1 more source

Psychosocial Problems on Adolescents with Thalassemia Major: A Systematic Scoping Review [PDF]

open access: yes, 2023
Disease and treatment of thalassemia major that are carried out for life can cause physical and psychological problems in sufferers. Adolescents with thalassemia major will experience disturbances at a stage of development that is undergoing dynamic ...
Letcmi Panduragan, Santhna   +3 more
core   +1 more source

Genetic and Clinical Characteristics of Thalassemia Trait and Construction of LASSO‐Based Model for Its Differentiating From Iron Deficiency Anemia in Northern China

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study revealed a β‐thalassemia‐trait‐dominated genetic spectrum in Northern‐Chinese patients with microcytic hypochromic anemia, with _αSEA/αα, HBB:c.316_197C>T and HBB:c.124_127delTTCT being the most prevalent α‐ and β‐globin genotypes. Using LASSO regression, we constructed a nomogram based on four routine complete‐blood‐count parameters (RBC ...
Wen‐jie Yu   +6 more
wiley   +1 more source

THALASSEMIA MAJOR � A MAJOR CHALLENGE IN PAKISTAN

open access: yesPakistan Armed Forces Medical Journal, 2014
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Salman Ali
doaj   +2 more sources

Complications of patients with thalassemia major and intermedia in a selected Iranian population

open access: yesCaspian Journal of Internal Medicine, 2022
Background: Due to anemia in thalassemia major (TM) and thalassemia intermedia (TI) patients, bone changes occur, especially in the broad bones like jaw and skull, which are the main sites of hematopoiesis.
Vahid Azizi   +3 more
doaj  

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

open access: yesHaematologica, 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   +5 more
doaj   +1 more source

Evaluation of Hepatic Enzymes in major β-thalassemic Patients using Deferasirox

open access: yesIraqi Journal of Pharmaceutical Sciences, 2022
β-thalassemia major is a genetic disease that causes sever defect in normal hemoglobin synthesis. The patients with β-thalassemia major need periodic blood transfusions that can result in accumulation of body iron, so treatment with iron chelating agent ...
Ahmed Yahya Dallal Bashi   +1 more
doaj   +1 more source

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