Results 31 to 40 of about 38,246 (331)
Cancer, 2022 The correlation between thalassemia and malignancies other than hepatocellular carcinoma (HCC) and the possible relationship between other hemoglobinopathies and tumor risk have been poorly evaluated.
R. Origa +20 more
semanticscholar +1 more source
Thalassemia Reports, 2022 This is a report of a couple with abnormal hematological indices who were investigated for α & β-thalassemia mutations. Based on CBC and capillary hemoglobin electrophoresis results, the male and female subjects were β & α-thalassemia carriers ...
Hossein Jalali +3 more
doaj +1 more source
Pakistan Journal of Medical Sciences, 2022 Background & Objective: Determination of hemoglobinopathies is significant for epidemiological studies. There is a need to identify burden of hemoglobinopathies at national level to lay down the foundation of appropriate screening and prevention programs.
Neelum Mansoor +3 more
semanticscholar +1 more source
Vnitřní lékařství, 2018 This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ ...
Karel, Indrák +6 more
openaire +2 more sources
Mediterranean Journal of Hematology and Infectious Diseases, 2020 Not required for ...
Lorenza Torti +5 more
doaj +1 more source
Cureus, 2022 Background The study was conducted to find the prevalence of hemoglobinopathies along with their geographical/ethnic distribution to highlight the region of high prevalence that can be used to guide screening. Method Results of blood samples received for
I. Shaikh +4 more
semanticscholar +1 more source
The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies
Frontiers in Physiology, 2021 During the last few years, next-generation sequencing (NGS) has undergone a rapid transition from a research setting to a clinical application, becoming the method of choice in many clinical genetics laboratories for the detection of disease-causing ...
Ahlem Achour +3 more
semanticscholar +1 more source
American journal of hematology/oncology, 2021 Hemoglobinopathies, including sickle cell disease (SCD) and thalassemia syndromes, represent the commonest monogenic diseases in the world. Although their pathogenicity is well established, the diverse clinical manifestations and the varying degree of ...
P. Kountouris +17 more
semanticscholar +1 more source
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 +8 more sources
Improving the EMA Binding Test by Using Commercially Available Fluorescent Beads
Frontiers in Physiology, 2020 Hereditary spherocytosis (HS) is a common anemia caused by germline mutations in red blood cell cytoskeleton proteins. The flow cytometry-based eosin-5′-maleimide (EMA) binding test is most frequently employed for reliable diagnostics.
Andreas Glenthøj +5 more
doaj +1 more source