Results 1 to 10 of about 28,606 (278)

Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

Indian Journal of Public Health, 2012
Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide ...
Bhawna Bhutoria Jain, Rabindra Nath Roy, Sulekha Ghosh, Tapan Ghosh, Uma Banerjee, Subodh Kumar Bhattacharya   +5 more
doaj   +2 more sources

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies: A Short Review on Classical Laboratory Methods—Isoelectric Focusing, HPLC, and Capillary Electrophoresis

International Journal of Neonatal Screening, 2018
Sickle cell disease (SCD) and other hemoglobinopathies are a major health concern with a high burden of disease worldwide. Since the implementation of newborn screening (NBS) for SCD and other hemoglobinopathies in several regions of the world, technical
Claudia Frömmel
exaly   +3 more sources

COVID-19 infection and beta thalassemia; a single center experience in Iran [PDF]

Journal of Preventive Epidemiology, 2021
Introduction: COVID-19 infection is a contagious acute respiratory syndrome, leading to a high mortality rate; it is also a systemic disease, and all people are at risk of being infected, including hemoglobinopathies patients.
Roya Salehi Kahyesh, Arash Alghasi, Bijan Keikhaei Dehdezi, Adeleh Khazami, Marzeieh Abbasi Nasab   +4 more
doaj   +1 more source

Epidemiological surveillance of SARSCov2 in β-Thalassemia Patients in the last two years: reinfection rate, insights and future challenges

Mediterranean Journal of Hematology and Infectious Diseases, 2023
Background: Although the association between comorbidities and the severity of COVID-19 infection has been extensively discussed, data on COVID-19 and hemoglobinopathies are still limited.
Lorenza Torti, Francesco Sorrentino, Laura Maffei, Paolo De Fabritiis, Elisabetta Abruzzese   +4 more
doaj   +1 more source

Hb^Adrian (α1:c.251del, p.Leu84Argfs*19)—A Novel Pathogenic Variant in the α1-Globin Gene Associated with Microcytosis from the North of Iran

Thalassemia Reports, 2023
Background: Alpha thalassemia is one of the most common human genetic abnormalities. More than 400 different variations of the α-globin protein have been introduced, most of which are not associated with noticeable clinical manifestations.
Hossein Jalali, Hossein Karami, Mahan Mahdavi, Mohammad Reza Mahdavi   +3 more
doaj   +1 more source

Hemoglobinopathies [PDF]

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, Martina, Divoká, Dagmar, Pospíšilová, Jaroslav, Čermák, Monika, Beličková, Monika, Horváthová, Vladimír, Divoký   +6 more
openaire   +2 more sources

Co-Inheritance of Heterozygous β⁰-Thalassemia with Single Functional α-Globin Gene: Challenges of Carrier Detection in Pre-Marital Screening Program for Thalassemia

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, Hossein Karami, Mohammad Reza Mahdavi, Mehrad Mahdavi   +3 more
doaj   +1 more source

Impact of SARS CoV-2 in hemoglobinopathies: a protective mechanism being from Beta chain Hemoglobin defects?

Mediterranean Journal of Hematology and Infectious Diseases, 2020
Not required for ...
Lorenza Torti, Laura Maffei, Francesco Sorrentino, Paolo De Fabritiis, Rossella Miceli, Elisabetta Abruzzese   +5 more
doaj   +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, Campo-Fernandez, Beatriz, Cooper, Aaron R, Hoban, Megan D, Hollis, Roger P, Kaufman, Michael L, Kohn, Donald B, Lumaquin, Dianne, Romero, Zulema, Senadheera, Shantha, Urbinati, Fabrizia, Wang, Xiaoyan, Wherley, Jennifer   +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, Alaa Sharfo, Christian Brieghel, Amina Nardo-Marino, Henrik Birgens, Jesper Brix Petersen   +5 more
doaj   +1 more source