SNP Shot: Genomic Insights

Familial erythrocytosis is a genetic disorder marked by a higher-than-normal count of red blood cells (erythrocytes). These cells are crucial for transporting oxygen from the lungs to all parts of the body. Individuals with this condition may experience symptoms like headaches, dizziness, nosebleeds, and difficulty breathing. The elevated red blood cell count also increases the likelihood of developing dangerous blood clots that can obstruct blood flow in arteries and veins. If these clots impede blood supply to vital organs and tissues, particularly the heart, lungs, or brain, serious, life-threatening complications like heart attacks or strokes can occur. However, some individuals with familial erythrocytosis may have only mild symptoms, or even no symptoms at all.

Inheritance:

The way familial erythrocytosis is passed down through families varies depending on the specific gene affected. When mutations in the EPOR, EGLN1, or EPAS1 genes are the cause, the condition follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed in each cell to cause the disorder. In most cases, affected individuals inherit the mutated gene from one parent who also has the condition. Conversely, when mutations in the VHL gene cause familial erythrocytosis, it follows an autosomal recessive inheritance pattern. This requires both copies of the gene in each cell to be mutated for the condition to manifest. In this scenario, both parents of an affected individual carry one copy of the mutated gene, but they usually don't exhibit any signs or symptoms of the condition themselves.