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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections (read full description).
Jul 18, 2017
Spectrin alpha, erythrocytic 1
The SPTA1 gene codes for spectrin, which is a part of the red blood cell membrane and important in determining its shape (Knowles et al., 1984).
A change in this gene was identified in a UDN participant.
Of note: Spectrin staining and blood smears were normal. Additionally, the protein coded for by this gene was not found to be defective.
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