Publications by authors named "Spela Zula"
Article Synopsis
- Erythrocytosis is when there's too many red blood cells in the body, shown by high levels of hemoglobin and hematocrit in tests.
- It’s rare for this condition to be passed down through generations, with only a few specific genes being linked to it.
- A study with 25 patients aimed to find genetic causes of erythrocytosis using advanced testing, which found one clear cause and some new, unclear ones, helping doctors manage the condition better.
J Clin Lab Anal
April 2021
Article Synopsis
- - The study investigates erythrocytosis, a condition characterized by high levels of red blood cells, hemoglobin, or hematocrit, focusing on a family with unknown causes and exploring 39 genes to find potential mutations that could indicate the disease's genetic basis.
- - Molecular-genetic analysis was conducted on two affected family members and one healthy relative using targeted next-generation sequencing (NGS) to analyze variants in 24 erythrocytosis-related genes and 15 hereditary hemochromatosis-associated genes.
- - Out of 12 identified genetic variants, two were classified as potentially disease-driving; these were not found in a healthy relative, suggesting their potential role in the erythrocytosis observed in the family,
