Methaemoglobinaemia, CYB5A-related
Also known as: Congenital methemoglobinemia · Cytochrome b5 deficiency · CYB5A deficiency · Hereditary methemoglobinemia · CYB5A-associated methemoglobinemia · …
Overview
What it is
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.
How it presents
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.
Treatment
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.
How it's tested
CYB5A-Methämoglobinämie DNA-Test(CYB5A)
Primary testDNA testEin DNA-Test zum Nachweis der Mutation im CYB5A-Gen, die zu einem Mangel an Cytochrom b5 und somit zu Methämoglobinämie führt.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Methaemoglobinaemia, CYB5A-related?
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.
How is Methaemoglobinaemia, CYB5A-related tested?
Tests currently in our database: CYB5A-Methämoglobinämie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.