Iron-Refractory Iron Deficiency Anemia (IRIDA) is a hereditary disorder associated with mutations in TMPRSS6.
Gene: TMPRSS6 (matriptase-2), a transmembrane serine protease expressed in the liver
Location: 22q12.3
Mechanism: TMPRSS6 normally downregulates hepcidin production by cleaving hemojuvelin. Excessive hepcidin inhibits iron absorption from the intestine and iron release from macrophages.
Inheritance: autosomeal recessive
Clinical features:
(1) chronic anemia
(2) light-colored hair
(3) no response to oral iron replacement
(4) some improvement with long-term parenteral iron therapy
Laboratory features:
(1) microcytic anemia with low serum iron concentration
(2) elevated serum hepcidin concentration
(3) increased hepcidin concencentration in the urine
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