Results 21 to 30 of about 53,686 (285)
AIMS Molecular Science, 2021 Hereditary Hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism associated with HFE gene mutations, characterized by increased iron absorption and accumulation leading to multi-organ damage caused by iron overload toxicity.
Bhuvana Selvaraj +4 more
doaj +1 more source
Thalassemia (Beta-Thalassemia)
International Journal For Multidisciplinary Research, 2023 Thalassemia is an inherited blood disorder characterized by less oxygen carrying protein (Haemoglobin) and fever red blood cells in the body than normal. There are mainly two types of thalassemia i.e. Alpha and Beta thalassemia about 1-5% of the global population 80-90 million people are the carrier of ß thalassemia which is major concern.
Tathe Pratiksha Annasaheb - +2 more
openaire +1 more source
Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2020 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
Prevalence of the C282Y and H63D mutations of the HFE hemochromatosis gene in Azerian major β-thalassemia and iron overload [PDF]
, 2016 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
Iraqi Journal of Hematology, 2022 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
The Professional Medical Journal, 2018 Objectives: To assess the sensitivity of the various discrimination indicesas screening test in beta-thalassemia trait patients in our population. Study design: Crosssectional descriptive study. Period: 1-Sep 2012 to 31-Jan 2013 (5 months). Settings: PathologyDepartment, District Head Quarters (DHQ) Hospital, Rawalpindi.
Muhammad Ihtesham Khan +2 more
openaire +4 more sources
The human ankyrin 1 promoter insulator sustains gene expression in a β-globin lentiviral vector in hematopoietic stem cells. [PDF]
, 2015 Lentiviral vectors designed for the treatment of the hemoglobinopathies require the inclusion of regulatory and strong enhancer elements to achieve sufficient expression of the β-globin transgene.
Baldwin, Kismet M +12 more
core +4 more sources
Early Screening of Hemoglobinopathy in Indonesia Using Erythrocyte Indices [PDF]
, 2017 BACKGROUND: The mutation spectrums of hemoglobinopathy are different among populations that yield a different result of erythrocyte indices. Calculation of erythrocyte indices with some formula has been reported to differentiate between hemoglobinopathy ...
Rositawati, W. (Wiwik) +3 more
core +3 more sources
.BETA.+-Thalassemia with Hemochromatosis.
Internal Medicine, 1992 A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7 g/dl, mean corpuscular volume 82 fl, and ferritin 2,360 ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of beta-thalassemia was suggested by a decreased ratio of beta/alpha-globin synthesis in vitro (0.26).
Masakatsu UCHIHARA +11 more
openaire +3 more sources
Hospitalization causes due to iron overload in beta-Thalassemia in Gorgan, Iran [PDF]
, 2011 Objective: To evaluate causes of hospitalization (due to complications of iron overload and other causes) in beta-Thalassemic patients. Methodology: This study was performed on 244 patients with major beta-Thalassemia admitted in Taleghani hospital of ...
Jahazi, A. +2 more
core