Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients [PDF]
Background: Human erythropoiesis is characterized by distinct gene expression profiles at various developmental stages. Previous studies suggest that fetal-to-adult hemoglobin switch is regulated by a complex mechanism, in which many key players still ...
Ali, Bassam R.+11 more
core +4 more sources
Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report [PDF]
Delta-beta Thalassemia is a rare variant of thalassemia with elevated Hb F. Heterozygous and homozygous state of delta-beta thalassemia present with features similar to Hereditary Persistence of Fetal Haemoglobin (HPFH) and beta thalassemia ...
Varun Kumar Singh+3 more
doaj
BACKGROUND: Anemia of β thalassemia results from a combination of ineffective erythropoiesis and hemolysis. This stimulates erythropoietin (EPO) production, which causes expansion of the bone marrow and may lead to serious deformities of the skull and ...
May Hikmat Yousif+1 more
doaj +1 more source
Beta-thalassemia: renal complications and mechanisms: a narrative review
Objectives: Beta-thalassemias are a group of recessively autosomal inherited disorders of hemoglobin synthesis, which, due to mutations of the beta-globin gene, lead to various degrees of defective beta-chain production, an imbalance in alpha/beta-globin
C. Demosthenous+8 more
semanticscholar +1 more source
The effects of group play therapy on self-concept among 7 to 11 year-old children suffering from thalassemia major [PDF]
Background: Children suffering from thalassemia have higher levels of depression and lower levels of self-concept. Objectives: The aim of this study was to determine if group play therapy could significantly increase self-concept among children with ...
Dastoorpoor, M.+5 more
core +1 more source
Gene Therapy For Beta-Thalassemia: Updated Perspectives
Allogeneic hematopoietic stem cell transplantation was until very recently, the only permanent curative option available for patients suffering from transfusion-dependent beta-thalassemia.
Garyfalia Karponi, Nikolaos Zogas
semanticscholar +1 more source
Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload [PDF]
In this study, we have determined the allele frequency of HFE mutations H63D and C282Y in a group of Azerian beta-thalassemia major patients. These two mutations are implicated in hereditary hemochromatosis among Caucasians.
Ahmadi, M. R. H.+6 more
core +1 more source
Background Considering the high prevalence of depression and anxiety among thalassemia patients and the role of social support in preventing mental disorders, this study aimed to determine prevalence of depression, anxiety, and perceived social support ...
A. Maheri+5 more
semanticscholar +1 more source
Identification of erythroferrone as an erythroid regulator of iron metabolism. [PDF]
Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores.
Ganz, Tomas+5 more
core +1 more source
ANALYSIS OF MALONDIALDEHYDE LEVELS IN CHILDREN WITH BETA THALASSEMIA: A CROSS-SECTIONAL STUDY [PDF]
Beta thalassemia is an autosomal recessive genetic condition affecting people worldwide, including in Indonesia. Malondialdehyde levels, a peroxidation product, can be used to see if there is an iron buildup in the body due to lifelong transfusions. This
Alasiry, Ema+5 more
core +1 more source