Results 131 to 140 of about 38,246 (331)
GENE THERAPY IN THALASSEMIA AND HEMOGLOBINOPATHIES
Sickle cell disease (SCD) and ß-thalassemia represent the most common hemoglobinopathies caused, respectively, by the alteration of structural features or deficient production of the ß-chain of the Hb molecule.
Laura Breda +2 more
doaj +1 more source
A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom [PDF]
OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders
Darlison, M +7 more
core +1 more source
Saudi SCD patients’ symptoms and quality of life relative to the number of ED visits [PDF]
Background Individuals living with sickle cell disease (SCD) have significantly increased emergency department (ED) use compared to the general population. In Saudi Arabia, health care is free for all individuals and therefore has no bearing on increased
Ahmed, Anwar E. +6 more
core +2 more sources
Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program
Objectives: To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre. Methods: This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan,
Hassan A. Hamali, M. Saboor
semanticscholar +1 more source
Perceived utility of genetic carrier screening in a diverse patient population
Abstract Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X‐linked conditions.
Jack A. Colleran +6 more
wiley +1 more source
Assessment of Thyroid Hormones and Vitamin D Levels in Patients with Hereditary Hemoglobinopathies
Background: Hemoglobinopathies are ultimately developed many complications with a high of morbidity, secondary to iron overload. Thyroid dysfunction and bone disorders are the most common clinical manifestations.
Ghfran A. Kadim +1 more
doaj
Background: Nearly 226 million carriers of thalassemias and abnormal hemoglobin are present worldwide according to the World Health Organization (WHO). The laboratory plays an important role in the investigation of the thalassemias and hemoglobinopathies.
R Jha
doaj +1 more source
HPLC Retention Time as a Diagnostic Tool for Hemoglobin Variants and Hemoglobinopathies: A Study of 60000 Samples in a Clinical Diagnostic Laboratory [PDF]
Alla Joutovsky +2 more
openalex +1 more source
OBJECTIVE To describe the prevalence of hemoglobinopathies in the Brazilian adult population, according to laboratory tests from the National Health Survey.
L. G. Rosenfeld +7 more
semanticscholar +1 more source

