Vacuolization of large myeloid lineage and absence of erythroblast and megakaryocyte: Clues to the diagnosis of hereditary transcobalamin II deficiency

Pediatr Blood Cancer. 2023 Oct;70(10):e30399. doi: 10.1002/pbc.30399. Epub 2023 May 9.

Authors

Xiaojuan Luo¹, Zhenhu Lin¹, Meizhu Luo¹, Fuping Shen², Ke Cao¹, Jinlin Liu³

Affiliations

¹ Clinical Laboratory, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
² School of Medical Technology and Information Engineering, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
³ Department of Clinical Laboratory, South China Hospital, Medical School, Shenzhen University, Shenzhen, Guangdong, China.

PMID: 37158504
DOI: 10.1002/pbc.30399

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Macrocytic*
Cell Lineage
Erythroblasts
Humans
Infant
Megakaryocytes
Transcobalamins* / deficiency
Vitamin B 12 / metabolism

Substances

Transcobalamins
Vitamin B 12