Alpha-thalassemia/mental retardation syndrome, x-linked

Getting a diagnosis of alpha-thalassemia X-linked intellectual disability syndrome can be overwhelming for a family. Because it is a relatively rare condition, most families have not heard of this condition prior to the diagnosis being made. The first step to take once the diagnosis is made is to have a visit with a genetics professional such as a medical geneticist and/or a genetic counselor to discuss what the condition is, what this means for your family, and how to manage the medical and developmental issues that may come from having this diagnosis. They can make sure that the appropriate management and treatment plan is in place. It is also essential to get information from trustworthy sources. Your genetic counselor can provide you with additional, specific written and online sources of information about alpha-thalassemia X-linked intellectual disability syndrome. Some general information about alpha-thalassemia X-linked intellectual disability syndrome is available through Genetics Home Reference: https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disability-syndrome. General information about rare diseases and peer support can be found though the National Organization for Rare Disorders: http://rarediseases.org/.