Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

Eoghan Dunlea; Ellen Crushell; Melanie Cotter; Nenad Blau; Carlos R Ferreira

doi:10.1016/j.ymgme.2023.107735

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

Mol Genet Metab. 2023 Dec;140(4):107735. doi: 10.1016/j.ymgme.2023.107735. Epub 2023 Nov 13.

Authors

Eoghan Dunlea¹, Ellen Crushell², Melanie Cotter³, Nenad Blau⁴, Carlos R Ferreira⁵

Affiliations

¹ Dept of Haematology, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, Trinity College, Dublin, Ireland. Electronic address: eoghan.dunlea@childrenshealthireland.ie.
² National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland.
³ Dept of Haematology, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland. Electronic address: melanie.cotter1@childrenshealthireland.ie.
⁴ Division of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
⁵ National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.

PMID: 37989003
DOI: 10.1016/j.ymgme.2023.107735

Abstract

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these issues is important for optimal outcomes in people with IMDs. Some disorders that are included in the nosology of inherited metabolic disorders, such as inherited disorders of red cell energy metabolism, have purely hematological features, and have typically been cared for by a hematologist. In the 16th issue of the Footprints series, we identified 265 IMDs associated with hematological abnormalities. We review the major hematological manifestations of IMDs, suggest further investigation of hematological findings, and discuss treatment options available for specific hematological complications of IMDs.

Keywords: Anemia; Bone marrow morphology; Coagulation abnormalities; IEMbase; Neutropenia; Pancytopenia; Thrombocytopenia; White blood cell morphology.

Publication types

Review

MeSH terms

Anemia*
Humans
Metabolic Diseases* / genetics