Genetic Test
The CYB5R3 (Cytochrome B5 Reductase 3) gene encodes a protein that is anchored to cellular membranes, including those of intracellular organelles, and is involved in various metabolic processes.
In red blood cells, this protein also exists in a soluble cytoplasmic form, where it plays a critical role in the regulation of methemoglobin levels.
Methemoglobin is an oxidized form of hemoglobin that cannot effectively bind and transport oxygen. The CYB5R3 enzyme helps reduce methemoglobin back to its functional form, maintaining normal oxygen delivery throughout the body.
This genetic test targets two known mutations in the CYB5R3 gene associated with methemoglobinemia.
Disease Description
Hemoglobin is a protein found within red blood cells that is responsible for transporting oxygen throughout the body.
When the iron within hemoglobin becomes oxidized from the ferrous (Fe²⁺) to the ferric (Fe³⁺) state, it forms methemoglobin, which is incapable of binding and carrying oxygen.
Methemoglobinemia is a condition in which excessive levels of methemoglobin accumulate in the blood, reducing the ability of red blood cells to deliver oxygen to tissues.
This results in impaired oxygenation and can lead to clinical signs such as cyanosis, weakness, and anemia.
