Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Thiamine-Responsive Megaloblastic Anemia Syndrome

System/ConcernEvaluationComment
Hematologic
  • Peripheral blood count
  • Bone marrow analysis for evidence of megaloblastic anemia
Hearing Audiologic eval
Endocrine Fasting serum glucose concentration, OGTT, & urinalysis to diagnose DM
Eyes Ophthalmologic eval
Cardiac
  • Cardiac eval, incl echocardiography
  • EKG
Neurologic
  • Neuroimaging, incl brain MRI if clinically indicated
  • Assess for seizures.
Genetic
counseling 		By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of TRMA to facilitate medical & personal decision making

DM = diabetes mellitus; MOI = mode of inheritance; OGTT = oral glucose tolerance test

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Thiamine-Responsive Megaloblastic Anemia Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.