Severe Macrocytic Anemia Associated With a Novel ALAS2 Mutation: A Case Report and Literature Review
Haodong Cai, Kefeng Shen, Jin Wang, Jia Gu, Meilan Zhang, Min Xiao · 2026
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Description
Haodong Cai and co-authors report a puzzling blood case in a 2026 paper. A gene defect called ALAS2 usually causes anemia with small red cells, passed down the X chromosome in males. Girls and women who carry one copy sometimes show the opposite pattern, big red cells, which can be mistaken for a vitamin lack or a bone marrow disease.
A 15 year old girl had lived with stubborn big cell anemia for eight years. Blood tests, iron studies, and marrow checks narrowed the search. Whole exome sequencing then found a new variant in the gene. The report pairs her case with past cases to explain how the odd pattern arises.
Catalog record
| CREATOR | Haodong Cai, Kefeng Shen, Jin Wang, Jia Gu, Meilan Zhang, Min Xiao |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |