Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series.

Kritsada SinghaNattiya TeawtrakulGoonnapa FucharoenSupan Fuchareon

Published in: Journal of clinical pathology (2023)

Biallelic KLF1 mutations associated with anaemia may not be uncommon in Thailand. Characteristics of haemolytic anaemia, abnormal red cell morphology with nucleated red blood cells and elevated Hb F, and presenting small amounts of Hb Bart's without thalassaemia diseases are useful markers to further investigation of the KLF1 gene.

Keyphrases

red blood cell
iron deficiency
transcription factor
intellectual disability
single cell
genome wide
cell therapy
copy number
cord blood
autism spectrum disorder
gene expression
single molecule
dna methylation
genome wide identification
genome wide analysis