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= Iron-Refractory Iron Deficiency Anemia = Iron-Refractory Iron Deficiency Anemia (IRIDA), a type of iron deficiency anemia, is a condition in which the red blood cells are small and pale, and cause too little iron to be present in blood. IRIDA prevents the tissues in the body from receiving the necessary supply of oxygen. Iron-Refractory Iron Deficiency Anemia is often caused hereditarily (genetically passed down from parent to offspring).

Genetic Causes


Iron-deficiency anemia can be a genetic disorder due to a mutation in a parent’s genetic code. Iron-refractory iron deficiency anemia (IRIDA) is a rare condition that is caused by a mutation in the TMPRSS6 gene (which is typically expressed in the liver). This gene is responsible for encoding the matriptase-2 protein, which is responsible for regulating iron levels. As a result of a gene mutation in TMPRSS6, the levels of hepcidin (the regulator of iron levels) go uncontrolled. Hepcidin is a peptide hormone produced in the liver that regulates the distribution of iron.

Hepcidin signaling pathways (inhibited by matriptase-2) will be reduced when iron levels are significantly decreased. This often leads to hepatomegaly (enlargement of the liver) and/or splenomegaly (enlargement of the spleen) as iron is transported from supply systems in the body, such as the liver and spleen, to regulate iron levels in the bloodstream.

Since the TMPRSS6 gene is autosomal recessive, an offspring can have the genotype underlying IRIDA if both parents carry and pass on the allele to their offspring. Studies have shown that any type of TMPRSS6 gene mutation can lead to iron-refractory iron deficiency anemia, including missense, nonsense, and frameshift.

Generally, women are put at higher risk for anemia from menstruation and pregnancy.

=== Symptoms ===


 * Jaundice (a medical condition in which causes yellowing of the skin)
 * Pale skin
 * Weakness
 * Fatigue
 * Splenomegaly (enlargement of the spleen)
 * Hepatomegaly (enlargement of the liver)
 * Abnormal intestine morphology (small intestine abnormality)
 * Hyperkeratosis (thickening of the skin’s outer layer)
 * Ichthyosis (a condition in which the skin become overtly dry and develops a scale-like texture and look)

Diagnosis
Iron-refractory iron deficiency anemia is typically diagnosed using a blood test. In addition, looking at family history and genetics can help determine the prognosis. Genetic testing is used to confirm the diagnosis.

Treatments
Some doctors may, at first, have a patient with Iron-Refractory Iron Deficiency Anemia (IRIDA) take sufficient amounts of iron and vitamin C supplements to increase iron levels; however, oral treatments are commonly known to not improve IRIDA. If supplements do not initiate improvement, the patient may receive intravenous (IV) iron therapy. Studies have shown that IRIDA can partially or entirely diminish with growth.

== Other Name for TMPRSS6 gene ==


 * Matriptase-2
 * Membrane-bound mosaic serine proteinase matriptase-2
 * Transmembrane protease serine 6
 * Type II transmembrane serine protease 6

Reference section

 * 1) Anemia. Wikipedia; 2022.
 * 2) Iron-refractory iron deficiency anemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program https://rarediseases.info.nih.gov/diseases/10957/iron-refractory-iron-deficiency-anemia (accessed 2022 -04 -05).
 * 3) Hereditary Nonspherocytic Hemolytic Anemia. NORD (National Organization for Rare Disorders).
 * 4) Is iron deficiency anemia genetic? https://www.medicalnewstoday.com/articles/can-iron-deficiency-anemia-be-genetic (accessed 2022 -04 -05).
 * 5) Anemia - Symptoms and causes https://www.mayoclinic.org/diseases-conditions/anemia/symptoms-causes/syc-20351360 (accessed 2022 -04 -05).
 * 6) Hereditary Anemia: Types of Anemia That Can be Inherited https://www.everydayhealth.com/anemia/anemia-and-heredity.aspx (accessed 2022 -04 -05).
 * 7) IRIDA | Boston Children’s Hospital https://www.childrenshospital.org/conditions/irida (accessed 2022 -04 -05).
 * 8) TMPRSS6 gene: MedlinePlus Genetics https://medlineplus.gov/genetics/gene/tmprss6/ (accessed 2022 -04 -05).
 * 9) Finberg, K. E.; Heeney, M. M.; Campagna, D. R.; Aydınok, Y.; Pearson, H. A.; Hartman, K. R.; Mayo, M. M.; Samuel, S. M.; Strouse, J. J.; Markianos, K.; Andrews, N. C.; Fleming, M. D. Mutations in TMPRSS6 Cause Iron-Refractory Iron Deficiency Anemia (IRIDA). Nat Genet 2008, 40 (5), 569–571. https://doi.org/10.1038/ng.130.
 * 10) Yılmaz Keskin, E.; Yenicesu, İ. Iron-Refractory Iron Deficiency Anemia. Turk J Haematol 2015, 32 (1), 1–14. https://doi.org/10.4274/tjh.2014.0288.

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