Cargando…
Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin
High oxygen affinity hemoglobin (HOAH) is the main cause of constitutional erythrocytosis. Mutations in the genes coding the alpha and beta globin chains (HBA1, HBA2 and HBB) strengthen the binding of oxygen to hemoglobin (Hb), bringing about tissue hypoxia and a secondary erythrocytosis. The diagno...
Autores principales: | Filser, Mathilde, Gardie, Betty, Wemeau, Mathieu, Aguilar-Martinez, Patricia, Giansily-Blaizot, Muriel, Girodon, François |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774638/ https://www.ncbi.nlm.nih.gov/pubmed/35052472 http://dx.doi.org/10.3390/genes13010132 |
Ejemplares similares
-
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies
por: Tamana, Stella, et al.
Publicado: (2022) -
HBB mutations and HbA2 level: Escaping the carrier screening programs
por: Sharifi, Ameneh, et al.
Publicado: (2020) -
PB2235: COMPLETE DELETION OF THE CACCC BOX OF THE HBB GENE PROMOTER: A NEW MECHANISM LEADING TO A SILENT PHENOTYPE OF BETA THALASSEMIA
por: Mondesert, E., et al.
Publicado: (2022) -
Hemoglobin variants detected by hemoglobin A1c (HbA1c) analysis and the effects on HbA1c measurements
por: Nasir, Nadzimah Mohd, et al.
Publicado: (2010) -
Misleading HbA1c Measurement in Diabetic Patients with Hemoglobin Variants
por: Mitchai, Manthana, et al.
Publicado: (2021)