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 the SPTA1 gene was identified in a UDN participant.
The participant, a 5-year old male with absolute iron deficiency anemia, was found to carry a single copy of the following genetic change in the SPTA1 gene: c.6026G>A/ p.R2009H.
Of note: Spectrin staining and blood smears were normal. Additionally, the protein coded for by this gene was not found to be defective.
At 20 months, the patient’s parents noticed that he was chewing and eating parts of his crib (pica). At this time, he was found to have low hemoglobin. He underwent an extensive workup, but the cause of his symptoms was not identified.
Currently the patient receives iron supplementation to keep his iron levels stabile. When his iron levels are low, he seems to have speech issues, behave poorly, and be prone to respiratory infections.
Developmentally, the patient has difficulty with speech articulation, but has otherwise been developing typically.
Some of his other features include:
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