Results 31 to 40 of about 8,777 (197)

Metastatic SMARCB1-Deficient Renal Medullary Carcinoma without Hemoglobinopathy with Durable and Dramatic Response to Pembrolizumab plus Lenvatinib: Case Report

open access: yesCase Reports in Oncology
Introduction: Renal medullary carcinoma (RMC) is a rare form of renal cell carcinoma (RCC) that is typically associated with a loss of function in SMARCB1 and diagnosis of sickle cell or other hemoglobinopathy.
William McCamy   +4 more
doaj   +1 more source

Hemoglobinopathies in the Fetal Position [PDF]

open access: yesObstetric Anesthesia Digest, 2018
(N Engl J Med. 2018;379:1675–1677) Hemoglobinopathies are disorders caused by mutations in genes that encode globins and include sickle cell disease and β-thalassemia. It has been reported that adults with these hemoglobinopathies who have comparatively high levels of fetal hemoglobin (HbF) have better clinical outcomes than those with low ...
Pasricha, S, Drakesmith, H
openaire   +3 more sources

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

Livedoid vasculopathy in hemoglobinopathy-associated chronic leg ulcers [PDF]

open access: yes
Chronic leg ulceration is a debilitating manifestation of hemoglobinopathies, and best management is uncertain. Livedoid vasculopathy (LV) is a cutaneous non-inflammatory thrombotic vasculopathy treated with anticoagulation that has been identified in ...
Eswaran, Harish   +3 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

The Effect of Resveratrol on Gamma Globin Gene Expression in Patients with Beta Thalassemia: The Role of Adaptation to Cellular Stress

open access: yesThalassemia Reports
HbF induction is an appropriate strategy to ameliorate the severity of β-thalassemia symptoms. Hydroxyurea (HU) is the most common chemical agent introduced as an HbF inducer but responsiveness to HU is variable and the introduction of HbF inducers ...
Hossein Jalali   +5 more
doaj   +1 more source

Hemoglobin Variant (Hemoglobin Aalborg) Mimicking Interstitial Pulmonary Disease

open access: yesPulmonary Medicine, 2014
Hemoglobin Aalborg is a moderately unstable hemoglobin variant with no affiliation to serious hematological abnormality or major clinical symptoms under normal circumstances.
Vasiliki Panou   +4 more
doaj   +1 more source

Comparison of biochemical parameters of prevalent hemoglobinopathies with healthy individuals

open access: yesMedicine Science, 2020
Thalassemia is the most frequently seen monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α-or β-globin gene clusters.
Emrah Yerlikaya   +2 more
doaj   +1 more source

A Nonhuman Primate Transplantation Model to Evaluate Hematopoietic Stem Cell Gene Editing Strategies for β-Hemoglobinopathies

open access: yesMolecular Therapy: Methods & Clinical Development, 2018
Reactivation of fetal hemoglobin (HbF) is a promising approach for the treatment of β-hemoglobinopathies and the targeting of genes involved in HbF regulation is under intensive investigation. Here, we established a nonhuman primate (NHP) transplantation
Olivier Humbert   +4 more
doaj   +1 more source

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