Rh deficiency syndrome

Rh deficiency syndrome, also known as Rh-null syndrome, is a rare blood disorder where the red blood cells lack all Rh antigens. These antigens are important for maintaining the shape and stability of the red blood cell membrane. Without them, the cells become abnormally shaped and are more fragile, which can lead to their premature breakdown.

A common feature of this condition is a mild hemolytic anemia, meaning that the red blood cells break down more easily than normal. This may cause signs of anemia, although the severity is usually mild. People with this condition are also at greater risk for adverse reactions during blood transfusions.

Rh deficiency syndrome is caused by genetic changes. There are two types: the regulator type is linked to various mutations in the RHAG gene, and the amorph type is caused by silent alleles at the RH locus which result in inactive copies of the gene. This condition is inherited in an autosomal recessive manner, meaning that a person needs to inherit two copies of the defective gene to have the condition. Associated genes include RHAG.