Results 101 to 110 of about 2,697,911 (252)
medRxiv, 2021 Introduction: β-thalassemia is caused by autosomal mutations in the β-globin gene, which induce the absence or low-level synthesis of β-globin in erythroid cells.
Cristina Zuccato +17 more
semanticscholar +1 more source
Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease
Journal of Clinical Laboratory Analysis, EarlyView.We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang +7 more
wiley +1 more source
International Journal of Engineering and Technology, 2019 The problems in genome and proteome classification of mutations causing a thalassemia are synthesis, e.g. which thalassemia's database will choose? and then the technique that used in biomining to classify mutations causing thalassemia who can say is effective/optimal.
openaire +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.This study revealed a β‐thalassemia‐trait‐dominated genetic spectrum in Northern‐Chinese patients with microcytic hypochromic anemia, with _αSEA/αα, HBB:c.316_197C>T and HBB:c.124_127delTTCT being the most prevalent α‐ and β‐globin genotypes. Using LASSO regression, we constructed a nomogram based on four routine complete‐blood‐count parameters (RBC ...
Wen‐jie Yu +6 more
wiley +1 more source
Frontiers in MedicineObjectiveOur aim is to review the safety and efficacy of hydroxyurea (HU) on β-thalassemia patients.MethodsStudies that evaluated the safety and efficacy of HU on β-thalassemia patients were searched in Pub-Med, Cochrane Databases, Web of Science, China ...
Tianmin Huang +6 more
doaj +1 more source
JPGN Reports, EarlyView.Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda +2 more
wiley +1 more source
Diagram for the screening of hemoglobin variants, α/β-thalassemia and HPFH/δβ-thalassemia.
, 2013 Diagram for the screening of hemoglobin variants, α/β-thalassemia and HPFH/δβ-thalassemia.
Chun-Ping Lin (285488) +26 more
core +1 more source
Thalassemia intermedia in HbH-CS disease with compound heterozygosity for β-thalassemia: challenges in hemoglobin analysis and clinical diagnosis [PDF]
, 2009 Co-inheritance of α-thalassemia with homozygosity or compound heterozygosity for β-thalassemia may ameliorate β-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of α-thalassemia alleles (-α/αα --/αα, --/-α).
Tan, Mary Anne Jin Ai +4 more
core +1 more source
The Kaohsiung Journal of Medical Sciences, EarlyView.ABSTRACT Advances in therapy have extended the life expectancy of patients with thalassemia to near that of the general population; complications such as endocrine disorders and osteoporosis remain prevalent. This study aimed to identify endocrine complications, factors associated with endocrine complications, and changes in bone mineral density (BMD ...
Cheng‐Ying Hsu +7 more
wiley +1 more source
2021 update on clinical trials in β‐thalassemia
American journal of hematology/oncology, 2021 The treatment landscape for patients with β‐thalassemia is witnessing a swift evolution, yet several unmet needs continue to persist. Patients with transfusion‐dependent β‐thalassemia (TDT) primarily rely on regular transfusion and iron chelation therapy,
K. Musallam +3 more
semanticscholar +1 more source