X-linked sideroblastic anemia with ataxia

X-linked sideroblastic anemia with ataxia is a rare inherited condition. It is marked by a type of anemia where red blood cells are not made correctly, leading to low counts and abnormal cell size and color. Additionally, the condition is known for an early onset of ataxia, which means difficulties with coordination and balance. This ataxia is non-progressive or slowly progressive, which sets it apart from many other neurodegenerative conditions.

People with this condition typically experience mild to moderate anemia along with hypochromia (less color in the red blood cells) and microcytosis (smaller than average red blood cells). They also show signs of early-onset spinocerebellar ataxia, which affects coordination and balance.

The condition is caused by a mutation in the ABCB7 gene. This mutation is inherited in an X-linked manner, meaning the gene is located on the X chromosome. This genetic mutation disrupts the normal process of making healthy red blood cells and affects movement coordination.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.