Aase syndrome, also known as Aase-Smith syndrome, is a rare disease that causes problems such as constant anemia and malformations of the joints and bones in various parts of the body.
Some of the most common malformations include:
- This syndrome occurs at birth and is caused by a random genetic mutation during pregnancy.
- So in most cases it is a non-hereditary disease.
- However.
- There are some cases in which the disease can pass from parent to child.
Treatment is usually indicated by a pediatrician and includes blood transfusions during the first year of life to help control anemia. Over the years, anemia has become less pronounced and, as a result, transfusions may no longer be necessary, but frequent blood tests are recommended. to assess red blood cell levels.
In more severe cases, where it is not possible to balance red blood cell levels with blood transfusions, a bone marrow transplant may be necessary. See how this treatment is performed and what the risks are.
Malformations rarely require treatment because they don’t affect daily activities, but if this happens, the pediatrician may recommend surgery to try to rebuild the affected site and restore function.
Aase-Smith syndrome is caused by a modification of one of the 9 most important genes for protein formation in the body. This change usually occurs randomly, but in rarer cases it can pass from parent to child.
For example, when there are cases of this syndrome, it is always recommended to consult genetic counseling before becoming pregnant, to find out what the risk is of having children with the disease.
Diagnosis of this syndrome can only be made by the pediatrician by observing the malformations, however, to confirm the diagnosis, your doctor may order a bone marrow biopsy.
To identify anemia associated with the syndrome, a blood test is needed to evaluate the number of red blood cells.