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

