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Disease Profile

Iron-refractory iron deficiency anemia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

D50.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

IRIDA; IRIDA syndrome; Anemia, hypochromic microcytic, with defect in iron metabolism;

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

Iron-refractory iron deficiency anemia (IRIDA) is a type of iron deficiency anemia that typically does not improve with oral iron treatment. Children with IRIDA have too little iron in their blood, which causes their red blood cells to be small (microcytic) and pale (hypochromic). The anemia tends to be mild to moderate, but without enough healthy red blood cells, different parts of the body do not get enough oxygen. Symptoms of IRIDA are usually mild, but may include pale skin and in some cases, feeling weak, tired, or dizzy.[1][2] Growth and development of a child with IRIDA is usually normal.[1][2][3][4]

IRIDA is caused by changes or mutations in the TMPRSS6 gene and inheritance is autosomal recessive.[1][2][3] IRIDA is usually suspected in childhood due to the results of routine blood tests, but the diagnosis is confirmed by genetic testing.[4] Depending on the genetic change, some children may have enough improvement with oral iron treatment with vitamin C to need no other treatment. Therefore, treatment may first involve a trial of oral iron along with vitamin C for several weeks. If there is little to no improvement, treatment usually involves intravenous (IV) iron therapy, which may partially improve the anemia.[3] Red blood cell levels often increase on their own in adulthood, so that the anemia no longer is a problem.[4]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal intestine morphology
Abnormality of the intestine
0002242
Hyperkeratosis
0000962
Ichthyosis
0008064
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Pallor
0000980
Peripheral neuropathy
0009830
30%-79% of people have these symptoms
Decreased circulating copper concentration
Copper deficiency
0011967
Intrahepatic cholestasis
0001406
Percent of people who have these symptoms is not available through HPO
Anisocytosis
Unequal size of red blood cells
0011273
Autosomal recessive inheritance
0000007
Elevated hepcidin level
0031877
Hypochromic microcytic anemia
0004840
Poikilocytosis
0004447

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment

Children with iron-refractory iron deficiency anemia (IRIDA) usually do not respond to oral iron therapy. However, some children with IRIDA may partially respond to high doses of oral iron, prolonged oral iron therapy, or oral iron therapy combined with vitamin C. Medical researchers suggest the different responses to iron therapies may be linked to the exact change or mutation in the TMPRSS6 gene causing IRIDA.[3][4]

Current treatment guidelines recommend an initial trial of oral iron along with vitamin C for several weeks to see if the anemia improves. If there is no improvement or minimal improvement, further treatment involves intravenous (IV) iron therapy. Even with IV therapy, only a partial improvement is expected.[3][4] However in most cases, partial improvement of mild to moderate anemia results in enough healthy red blood cells to provide all of the body with oxygen.[3] In addition, although only a few people with IRIDA have been followed into adulthood, red blood cell levels have been found to increase to low normal levels, suggesting treatment of adults with IRIDA may not be needed.[3][4]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Iron-refractory iron deficiency anemia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Iron-refractory iron deficiency anemia. Click on the link to view a sample search on this topic.

References

  1. Iron-refractory iron deficiency anemia. Genetics Home Reference (GHR). July, 2014; https://ghr.nlm.nih.gov/condition/iron-refractory-iron-deficiency-anemia.
  2. Sanchez Fernandez M. IRIDA syndrome. Orphanet. May, 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981.
  3. Bhatia P, Jain R, Singh A. A structured approach to iron refractory iron deficiency anemia (IRIDA) diagnosis (SAID): The more is “SAID” about iron, the less it is. Pediatric Hematology Oncology Journal. August, 2017; 2(2):48-53. https://www.sciencedirect.com/science/article/pii/S2468124517301055.
  4. Keskin EY and Yenicesu I. Iron-Refractory Iron Deficiency Anemia. Turk J Haematol. March, 2015; 32(1):1-14. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439901/.

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