Bisalbuminemia

Bisalbuminemia is a rare inherited disorder characterized by the presence of two types of albumin in the blood. Albumin is the most abundant protein in human blood plasma, playing a crucial role in maintaining the osmotic pressure that helps transport molecules, including hormones, drugs, and substances like calcium throughout the body.

Causes[edit | edit source]

Bisalbuminemia is caused by a genetic mutation in the albumin gene (ALB), which is located on chromosome 4. This mutation results in the production of two different forms of albumin, referred to as albumin A and albumin B. The exact mechanism by which this mutation causes bisalbuminemia is not fully understood.

Symptoms[edit | edit source]

Most individuals with bisalbuminemia do not exhibit any symptoms and the condition is often discovered incidentally during routine blood tests. However, in some cases, individuals may experience symptoms related to the underlying cause of the bisalbuminemia, such as liver disease or kidney disease.

Diagnosis[edit | edit source]

Bisalbuminemia is typically diagnosed through serum protein electrophoresis, a test that separates proteins in the blood based on their electrical charge. In individuals with bisalbuminemia, this test will show two distinct bands of albumin, indicating the presence of two different forms of the protein.

Treatment[edit | edit source]

There is currently no specific treatment for bisalbuminemia, as the condition does not typically cause any health problems. Treatment is generally focused on managing any underlying conditions that may be present.