Results 11 to 20 of about 18,864 (254)

EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies. [PDF]

Hemasphere
Abstract Thalassemia and sickle cell disease (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence.
de Montalembert M, Cappellini MD, Iolascon A, de Franceschi L, Ömur E, Abi Saad M, Andolfo I, Bento C, Berghs M, Bonnet D, Glenthoj A, Gulbis B, Dolai TK, Lima J, Motta I, Russo R, Taher A, Tshilolo L, Almeida A, Rees D.   +19 more
europepmc   +2 more sources

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

Nephrological Complications in Hemoglobinopathies: SITE Good Practice [PDF]

, 2023
Background. Hemoglobinopathies, among which thalassemic syndromes (transfusion-dependent and non-transfusion dependent thalassemias) and sickle cell disease (SCD), are the most widespread monogenic diseases worldwide.
Antonia Gigante, Giovan Battista Ruffo, Giacomo Garibotto, Lucia De Franceschi, Monia Marchetti, Aurelio Maggio, Vincenzo Voi, Gian Luca Forni, Rodolfo Russo, Valeria Orecchia, Tommaso Casini, Letizia Lombardini, Raffaella Origa   +12 more
core   +2 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

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

Impact of hemoglobinopathies upon behaviors of adolescents

, 2022
Background: Hemoglobinopathies are the most common life threatening, monogenic disorders in the world. The most common causes of hemoglobinopathies are sickle cell disease and thalassemia. Objectives: The purpose of this study is to investigate Impact of
Hasan, Abdul Mahdi A., Badr, Shahznan Hassan   +1 more
core   +1 more source

Providing appropriate genetic information to healthy multi-ethnic carriers of hemoglobinopathy in The Netherlands

Thalassemia Reports, 2014
The aims of this study are: i) to enquire whether informing healthy hemoglobinopathy carriers about their condition is a welcome initiative in The Netherlands; ii) to study whether using information letters and thorough explanation is associated with ...
Piero C. Giordano, Natasha B.D. Binda, Antonio Amato, Egbert Bakker, Cornelis L Harteveld   +4 more
doaj   +1 more source

Validation of Gazelle Microchip Electrophoresis for Premarital Hemoglobinopathy Screening in Türkiye. [PDF]

EJHaem
ABSTRACT Introduction Hemoglobinopathies, the most prevalent recessive monogenic disorders globally, encompass thalassemia syndromes and structural hemoglobin variants, affecting approximately 5% of the world's population as carriers, with around 315,000 affected births annually.
Canatan D, Delibaş S, Altunsoy E, Gökkaya EG, Aydın S, Tuncel DA, Natu R, Thota P, Gurkan UA.   +8 more
europepmc   +2 more sources

Primary prevention of hemoglobinopathies by prenatal diagnosis and selective pregnancy termination in a Muslim country: Oman

Thalassemia Reports, 2014
Hemoglobinopathies (HBP) are the most common genetic disorder in Oman and are in need of prevention programs due to the high incidence of β-thalassemia major and sickle cell disease. Prenatal diagnosis (PD) and selective pregnancy termination is shown to
Suha Mustafa Hassan, Egbert Bakker, Cornelis L. Harteveld, Piero C. Giordano   +3 more
doaj   +1 more source

Investigating the Effects of Oral Ginseng on the Cancer-Related Fatigue and Quality of Life in Patients with Non-Metastatic Cancer

International Journal of Hematology-Oncology and Stem Cell Research, 2018
Background: Cancer affects the physical, psychological, and social aspects of the patients’ life. Cancer-related fatigue (CRF) is the most common and severe condition among cancer patients. Ginseng has long been used as an efficient treatment for CRF and
Khatereh Pourmohamadi, Ahmad Ahmadzadeh, Mahmood Latifi   +2 more
doaj   +1 more source