Results 1 to 10 of about 25,718 (237)

Epidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece [PDF]

Annals of Hematology
TDT and SCD are hereditary hemoglobinopathies that require lifelong red blood cell transfusions. Modern treatment has increased survival, exposing patients to transfusion-related problems such iron excess.
Sophia Delicou, Aikaterini Xydaki, Vassiliki Kamposou, Sabrina Goga, Anthimos Papadopoulos, Christina Rina, Maria Moraki   +6 more
doaj   +2 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

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

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

Thalassemia Reports, 2022
This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family.
Hossein Jalali, Mohammad Reza Mahdavi, Mahan Mahdavi, Adeleh Abbasi   +3 more
doaj   +1 more source

Assessment of Sleep Disorders in Children with Transfusion-Dependent Hemoglobinopathies [PDF]

Annals of Child Neurology, 2023
Purpose The aim of this study was to compare sleep problems between children with transfusion-dependent hemoglobinopathies and healthy controls. Methods This study was a case-control survey of children with transfusion-dependent hemoglobinopathies.
Ahmed Masoud Ali, Ahmad Darwish Mohamed, Mona Ahmed Elbilsha   +2 more
doaj   +1 more source