Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without α0-Thalassemia
Sign Up to like & getrecommendations! Published in 2020 at "Hemoglobin"
DOI: 10.1080/03630269.2020.1768109
Abstract: Abstract Hb Westmead (α122(H5)His>Gln) (HBA2: c.369C>G) is a common α-globin variant causing α-thalassemia (α-thal) in Mainland China. In this study, we report the hematological characteristics in Hb Westmead carriers in a Chinese population. There were… read more here.
Keywords: hematological characteristics; thal; compound heterozygotes; hba2 369c ... See more keywords
Hematological Characteristics of β-Globin Gene Mutation –50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China
Sign Up to like & getrecommendations! Published in 2020 at "Hemoglobin"
DOI: 10.1080/03630269.2020.1793774
Abstract: Abstract The −50 (G>A) (HBB: c.-100G>A) mutation was first reported as a β-thalassemia (β-thal) allele in a Chinese family. However, the hematological features of carriers with this variant are not available. In this study, we… read more here.
Keywords: hematological characteristics; thal; globin gene; hbb 100g ... See more keywords
Clinical Severity of β-Thalassemia Pediatric Patients in Myanmar
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2025825
Abstract: Abstract β-Thalassemia (β-thal) is highly prevalent in Myanmar, but limited data are available on the molecular basis and the clinical manifestations in Myanmar patients. In this study, we investigated the clinical features and β-globin gene… read more here.
Keywords: thal; clinical severity; myanmar; thalassemia ... See more keywords
Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire HBB Gene
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2145964
Abstract: Abstract β-Thalassemia (β-thal) is one of the most common monogenic recessive inherited diseases worldwide. The mutation spectrum of β-thal has been increasingly broadened by various genetic testing methods. The discovery and identification of novel and… read more here.
Keywords: deletion; thal; thalassemia; large novel ... See more keywords
Clinical variability and molecular characterization of Hbs/Gγ (Aγδβ)0-thal and Hbs/HPFH in Indian sickle cell disease patients: AIIMS experience
Sign Up to like & getrecommendations! Published in 2019 at "Hematology"
DOI: 10.1080/16078454.2019.1579985
Abstract: ABSTRACT Introduction: In sickle cell disease (SCD) patients, among the predictors of survival, HbF levels play a significant role in lowering the morbidity and mortality. Coinheritance of δβ thalassemia and hereditary persistence of fetal hemoglobin… read more here.
Keywords: hbs; thal; hbs hpfh; disease ... See more keywords