Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness.

Rubiceli Hernández-PeñaEric Jonathan Maciel-CruzLourdes Del Carmen Rizo-De La TorreFrancisco Javier Perea-DíazBertha Ibarra-Cortés

Published in: Laboratory medicine (2023)

The TMPRSS6 variants observed in Mexican patients with oral iron treatment refractoriness have high frequencies; nevertheless, their relationship with hematological and iron profile parameters needs further research. The possible biological impact for rs377054987 is due to size and amino acid hydrophobicity changes and hydrogen bond modifications.

Keyphrases

amino acid
copy number
gene expression
combination therapy
crystal structure