SPTA1

On this page, you will find information about a genetic change that was identified in a UDN participant. 

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Date of Report

Jul 18, 2017

Full Name

Spectrin alpha, erythrocytic 1

Location
Chromosome 1 (1q23.1)


Function

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).

Database Links

GeneCards: GC01M158580

Genetics Home Reference: SPTA1 gene

NCBI Gene: 6708

OMIM: 182860

UniProtKB/Swiss-Prot: P02549

Clinical Significance

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.

Gene SPTA1
Inheritance Pattern Autosomal dominant/Autosomal recessive
Position Chr1: 158592867
Transcript NM_003126
DNA Change c.6026G>A
Protein Change 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:

  • Intermittent small and pale red blood cells (chronic hypochromic, microcytic anemia)
  • Decreased number of immature red blood cells (reticulocytopenia)
  • Close-set eyes (short palpebral fissure)
  • Ringing in ears (tinnitus)
  • Asthma
  • Stomach inflammation (chronic hypertrophic gastritis)
  • Lactose intolerance
  • Elevated vitamin B12 levels
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