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Participant 027


absolute iron deficiency anemia

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5-year old boy with absolute iron deficiency anemia

Date of Report

Jul 18, 2017

Description

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

The following variants of uncertain significance were identified in this UDN participant:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant/Autosomal recessive
Chr16: 88798919 & Chr16: 88782205
NM_001142864
c.2815C>A & c.7374C>G *Note: variants are in cis
p.L939M & p.F2458L
Autosomal dominant/Autosomal recessive
Chr1: 158592867
NM_003126
c.6026G>A
p.R2009H
Contact

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