Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells [PDF]
Cell ReportsSummary: The most severe form of α-thalassemia results from loss of all four copies of α-globin. Postnatally, patients face challenges similar to β-thalassemia, including severe anemia and erythrotoxicity due to the imbalance of β-globin and α-globin ...
Simon N. Chu +24 more
doaj +4 more sources
Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China [PDF]
Frontiers in Pediatrics, 2023 PurposeTo explore the genotypes and allele frequencies of α, β and α+β thalassemias in Li minorities, which resided in Hainan Province of China for a long time.MethodsIn the present study, 1,438 newborns of the Li minority were collected from January ...
Kun Zhong +5 more
doaj +4 more sources
Abnormal hemoglobin anti-Lepore Hong Kong compound with β0-thalassemia ameliorate thalassemia severity when co-inherited with α-thalassemia [PDF]
Scientific ReportsAbnormal hemoglobin anti-Lepore Hong Kong is a rare βδ fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2.
Xiuqin Bao +6 more
doaj +3 more sources
Causal links of α-thalassemia indices and cardiometabolic traits and diabetes: MR study [PDF]
Life Science Alliance, 2023 Causal MR study links α-thalassemia-related erythrocyte traits to cardiometabolic risks and diabetes susceptibility in Taiwan. Our study aimed to investigate if genetic variants around 16p13.3’s HBA1 locus, associated with erythrocyte indices and HbA1c ...
Lung-An Hsu +3 more
doaj +2 more sources
Sensitivitas dan Spesifisitas α-Globin Strip Assay dalam Mendeteksi Mutasi Thalassemia-α
Sari Pediatri, 2016 Latar belakang. Thalassemia-α merupakan kelainan genetik yang dapat menyebabkan gejala klinis berat pada pasien. Deteksi mutasi thalassemia-α di Indonesia umumnya menggunakan metode PCR sebagai baku emas.
Dian Puspita Sari +1 more
doaj +2 more sources
Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy [PDF]
Orphanet Journal of Rare Diseases, 2022 Background To evaluate whether the quantification of fetal hemoglobin (Hb) Bart’s is useful for differentiation of α-thalassemia syndromes in the fetus and to characterize the fetal anemia associated with fetal α-hemoglobinopathy.
Kritsada Singha +6 more
doaj +2 more sources
Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion [PDF]
Scientific Reports, 2023 α-thalassemia is an inherited blood disorder that is most frequently found in Southeast Asian populations. In Thailand, molecular characterization can diagnose most patients with α-thalassemia; however, several atypical patients are also observed in ...
Wittaya Jomoui +3 more
doaj +2 more sources
Frontiers in Medicine, 2022 ObjectivesTo verify with hematimetric data that the diagnosis and clinical grade of β-TI can be established when a triplication of alpha genes (αααanti 3.7) and heterozygous β-thalassemia coexist.Materials and MethodsRetrospective study in which 73 ...
Paloma Ropero +6 more
doaj +2 more sources
MOESM2 of A validated cellular biobank for β-thalassemia
, 2016 Additional file 2: Table S2. HbF and HbA2 production in ErPC cultures from 14 β-thalassemia patients after 4 and 8 days differentiation.
Cosenza, Lucia +15 more
openaire +2 more sources
Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese [PDF]
Frontiers in GeneticsObjectiveThis study aimed to develop and assess a novel reverse dot blot assay for the simultaneous detection of 10 types of α-thalassemia alleles in the Chinese population, including six common variants of–SEA, -α3.7, -α4.2, αCS, αQS, and αWS, and four ...
Yi-Yuan Ge +4 more
doaj +2 more sources