SNP Shot: Genomic Insights

Methemoglobinemia (beta-globin type) is a disorder impacting red blood cell function. It changes hemoglobin, a molecule inside red blood cells. Normally, hemoglobin in red blood cells binds to oxygen in the lungs and transports it via the bloodstream to tissues throughout the body, where it releases the oxygen. In individuals with methemoglobinemia (beta-globin type), an abnormal form of hemoglobin called methemoglobin is present. This methemoglobin cannot effectively deliver oxygen to the body's tissues. This abnormal hemoglobin causes the blood to appear brown. A bluish discoloration of the skin, lips, and nails (cyanosis) is also characteristic, often appearing around 6 months of age. Generally, cyanosis is the primary symptom and doesn't lead to further health issues. However, in rare, severe cases, methemoglobinemia (beta-globin type) can result in headaches, weakness, and fatigue.

Inheritance:

This condition follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is needed to cause the condition.