Results 41 to 50 of about 8,109 (242)

Acute Ischemic Stroke in Sickle Cell Disease Challenges for Thrombolysis

open access: yesDubai Medical Journal, 2020
Sickle cell disease (SCD) is a hemoglobinopathy disorder that was recognized in 1949. Stroke is one of the most devastating complications of this disorder.
Amal Al Hashmi, Sanjith Aaron
doaj   +1 more source

Hemoglobinopathy is Associated With Total Hip Arthroplasty Indication Even Beyond Sickle Cell Anemia

open access: yes, 2023
Background: The extent to which hemoglobinopathies other than sickle anemia (HbSS) are associated with hip osteonecrosis is unknown. Sickle cell trait (HbS), hemoglobin SC (HbSC), and sickle/β-thalassemia (HbSβTh) may also predispose to osteonecrosis of ...
Cohen-Rosenblum, Anna   +7 more
core   +1 more source

Prognostic significance of mutated genes in megakaryocytic disorders

open access: yesOncology Reviews, 2019
Megakaryopoiesis is a process during which platelets that play a major role in hemostasis are produced due to differentiation and maturation of megakaryocytic precursors.
Ali Amin Asnafi   +4 more
doaj   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio   +19 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas   +6 more
wiley   +1 more source

Can Automated Hematology Analyzers Predict the Presence of a Genetic Hemoglobinopathy? An Analysis of Hematological Biomarkers in Cambodian Women

open access: yes, 2021
Genetic hemoglobinopathies are the most common single-gene disorder worldwide. Some automated hematology analyzers have the capability of flagging individuals who may have hematological disorders based on complete blood count (CBC) biomarkers.
Kelsey M. Cochrane   +17 more
core   +1 more source

Diagnosis of patients with hemoglobinopathies including α-thalassemia in a laboratory with limited resources

open access: yesIraqi Journal of Hematology, 2020
BACKGROUND: Diagnosis of α-thalassemia can be challenging as it is clinically insignificant in the majority of patients who are presented with one or two α-gene deletion, it cannot be always suspected from the red cell indices, and the confirmatory tests
Abbas Hashim Abdulsalam   +2 more
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain   +3 more
wiley   +1 more source

Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

open access: yes, 2022
The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or termination of affected ...
Harteveld, C.L.   +7 more
core   +1 more source

Home - About - Disclaimer - Privacy