Associated Papers
First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia.
Nuzhnaya E et al.
Diagnostics (basel, Switzerland), 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
37962303 (PubMed )
Supplement: gkad1034_supplemental_files.zip › Supplemental_Table_1.xlsx › Sheet1
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
A case of Hb Rothschild (HBB: c.112T>A) with low pulse oximetry: a first familial presentation in China.
Li D et al.
Hematology (amsterdam, Netherlands), 2022
Hb Alessandria [β37(C3)Trp→Leu; HBB: c.113G>T]: a Novel Variant on the β-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis.
Calcagno L et al.
Hemoglobin, 2022
Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.
Meznarich JA et al.
American Journal of Hematology, 2021
Detection of Hb Rothschild HBB: c.[112T>A or 112T>C], Through High Index of Suspicion on Abnormal Pulse Oximetry.
Alli NA et al.
Hemoglobin, 2017
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
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