Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.

Neelofar IqbalMarium Ali MeghaniWajeeha KhalidAli Hussain AnsariMuhammad Usman Hussain AnsariSaqib Hussain Ansari

Published in: Annals of hematology (2024)

In patients with unresolved pancytopenia and megaloblastic anemia, Transcobalamin deficiency should be investigated and treated promptly to prevent any irreversible and harmful outcome.

Keyphrases

case report
replacement therapy
chronic kidney disease
genome wide
iron deficiency
copy number
gene expression
dna methylation
newly diagnosed
mass spectrometry