TürkiyeDiagnosis and screening
Gene panel in 18 patients with hereditary spherocytosis in Istanbul: 9 new gene changes identified
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At Marmara University, 18 pediatric patients were studied genetically. A total of 21 changes were found in five genes. Of these, 9 were described for the first time. The disease was more severe in those with changes in the SPTA1 and SPTB genes. With EPB42 and SLC4A1 changes, the course was milder.
What does it mean for patients and families?
Genetic testing can help predict the course of the disease. It is also useful for genetic counseling for the family. This is a small study.
Source
Scientific paper: Multigene Panel Testing Reveals Novel Variants in Hereditary Spherocytosis Patients in Türkiye. Turkish Journal of Haematology, 2025. DOI: 10.4274/tjh.galenos.2025.2024.0270 · PubMed 39760301
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Hereditary spherocytosis
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.