Associated Papers
A Rare Combination of High-Affinity Hemoglobin, Non-Transfusion-Dependent Thalassemia (Αlpha-Triplication and Codon 39 Mutation), and Hereditary Stomatocytosis.
Fatigati C et al.
American Journal of Hematology, 2026
Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.
Park MS et al.
International Journal of Laboratory Hematology, 2025
MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.
Zhang Q et al.
Clinical Chemistry, 2022
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.
Yesilaltay A et al.
Medicine, 2022
Secondary erythrocytosis due to hemoglobin San Diego.
Oo TH
Proceedings (baylor University. Medical Center), 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Influence of high affinity haemoglobin on the response to normoxic and hypoxic exercise.
Dominelli PB et al.
The Journal of Physiology, 2020
First Description of Hb San Diego (HBB: c.328G>A) in a Chinese Family with Congenital Erythrocytosis.
Xiong H et al.
Hemoglobin, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey.
Yılmaz Keskin E et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2017
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C et al.
European Journal of Haematology, 2013