Congenital methemoglobinemia · Cytochrome b5 deficiency · CYB5A deficiency · Hereditary methemoglobinemia · CYB5A-associated methemoglobinemia · CYB5A-related hereditary methemoglobinemia · Congenital methemoglobinemia due to CYB5A deficiency
This is a rare hereditary blood disorder caused by a deficiency in the cytochrome b5 enzyme. This deficiency prevents red blood cells from properly converting methemoglobin—a non-functional form of hemoglobin—back into normal, oxygen-carrying hemoglobin. As a result, the blood cannot efficiently deliver oxygen to the body's tissues and organs.
Symptoms typically appear during puppyhood. Owners may notice a bluish-grey color in the gums and tongue, along with rapid fatigue, shortness of breath, and weakness during physical activity.
The condition is not curable but can be managed long-term with daily antioxidant supplements like Vitamin C. Lifelong management and routine veterinary monitoring generally cost between 1,000 and 4,000 EUR.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the Heart.