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Participant 027

absolute iron deficiency anemia
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Male, age 5, with absolute iron deficiency anemia, behavioral problems, and recurrent infections

Date of Report

Jul 18, 2017


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.

Symptoms / Signs
  • History low iron levels (hypoferremia)
  • Intermittent small and pale red blood cells (chronic hypochromic, microcytic anemia)
  • Decreased number of immature red blood cells (reticulocytopenia)
  • Pica
  • Behavioral problems
  • Close-set eyes (short palpebral fissure)
  • Ringing in ears (tinnitus)
  • Asthma
  • Recurrent respiratory infections
  • Stomach inflammation (chronic hypertrophic gastritis)
  • Lactose intolerance
  • Elevated vitamin B12 levels
Current Treatments
  • Iron supplementation– low iron levels
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Alpha-1 antitrypsin deficiency (ruled out by genetic testing and clinical testing)
  • TMPRSS6-related iron-refractory iron deficiency anemia (ruled out by genetic testing)
  • Sideroblastic anemia (negative urine hemosiderine)
  • Hemolytic anemia (negative urine hemosiderine)
  • (ruled out by multiple bone marrow aspirates and staining, no schistocytes)
  • Iron malabsorption of the gut/ consideration of errors in ferroportin gene (normal absorption on testing)
  • GI blood losses (negative tagged RBC studies, repeat negative occult blood tesing)
  • Red blood cell membrane disorders (RBC osmotic fragility testing normal)
  • Aberrant iron storage in the liver, brain, or bone marrow (negative T2* MRI imaging of liver and bone marrow, negative CT of brain)
  • BPGM gene testing (full gene sequencing normal)
  • Porphyria (ruled out by blood, urine and stool testing)
  • Hepcidin (ruled out by clinical testing indicates normal hemostasis)
  • Heavy metal poisoning (normal 24 hour urine collection, also examined blood and urine copper, zinc)
  • Meckel’s diverticulum
  • Celiac disease (negative clinical testing)
Other Photographs
absolute iron deficiency anemia
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
chr16:g.88798919G>T & chr16:g.88782205G>C
c.2815C>A & c.7374C>G *Note: variants are in cis
p.Leu939Met & p.Phe2458Leu

If this participant sounds like you or someone you know, please contact us!


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