Congenital Dyserythropoietic Anemia Type II Caused by a New SEC23B Sequence Variant
Geir Erland Tjønnfjord, Arne Loraas, Signe Spetalen, Liv Toril Nygård Osnes, Kristian Tveten · 2026
Read Congenital Dyserythropoietic Anemia Type II Caused by a New SEC23B Sequence Variant by Geir Erland Tjønnfjord, Arne Loraas, Signe Spetalen, Liv Toril Nygård Osnes, Kristian Tveten (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13536906.txt.
Description
Geir Erland Tjønnfjord and co-authors report three patients with a rare inherited anemia caused by a new gene variant. Their 2026 paper covers congenital dyserythropoietic anemia type II, the most common form of a group where red cell making is faulty. The bone marrow overgrows with young red cells, many with two nuclei.
The three patients, from Somalia, were diagnosed in early adulthood. Each had mild anemia, with signs of red cell breakdown or raised young red cell counts. A binding test showed reduced binding in all three, fitting the disease. Gene tests found the same new variant in both copies of the SEC23B gene in each patient. Adding new variants to the catalog helps labs confirm this rare diagnosis in future patients.
Catalog record
| CREATOR | Geir Erland Tjønnfjord, Arne Loraas, Signe Spetalen, Liv Toril Nygård Osnes, Kristian Tveten |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |