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Condition report · Hematological

Inherited Iron Disorders (IRIDA)

Rare recessive conditions that disturb how the body absorbs, carries or uses iron, causing iron-deficiency anaemia that does not respond to iron tablets, iron build-up in organs, or both. HFE haemochromatosis has its own report.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Iron-Refractory Iron Deficiency Anaemia (IRIDA)

Autosomal recessive

Caused by changes in both copies of TMPRSS6, high levels of the hormone hepcidin block iron absorption, leading to lifelong anaemia that responds poorly to iron tablets.

What a diagnosis changes

Knowing the cause avoids repeated investigations for blood loss and points to intravenous iron rather than tablets.

Genes analysed

Also known as

anemia, hypochromic microcytic, with defect in iron metabolism; IRIDA; iron-refractory iron deficiency anaemia; iron-refractory iron deficiency anemia; pseudo-iron-deficiency Anaemia

MONDO:0008788OMIM 206200Orphanet 209981MedGen 39081

Aceruloplasminaemia

Autosomal recessive

Caused by changes in CP, iron gradually builds up in the brain, pancreas, liver and retina in adulthood, leading to mild anaemia, diabetes, retinal changes and movement or memory problems.

What a diagnosis changes

Starting iron chelation early may prevent or slow damage to the brain and other organs.

Genes analysed

Also known as

cerebellar ataxia; familial apoceruloplasmin deficiency; hereditary ceruloplasmin deficiency; hypoceruloplasminemia, hereditary; systemic hemosiderosis due to aceruloplasminemia

MONDO:0011426OMIM 604290Orphanet 48818MedGen 168057

Atransferrinaemia

Autosomal recessive

Caused by changes in TF, a near absence of the iron-carrying protein transferrin leads to severe anaemia together with iron overload in organs.

What a diagnosis changes

Plasma or transferrin infusions can correct the anaemia, and iron overload can be monitored.

Genes analysed

Also known as

congenital atransferrinemia; congenital hypotransferrinemia; familial hypotransferrinemia; hereditary atransferrinemia

MONDO:0008846OMIM 209300Orphanet 1195MedGen 105489

Microcytic Anaemia with Liver Iron Overload (DMT1 Deficiency)

Autosomal recessive

Caused by changes in SLC11A2, which encodes the iron transporter DMT1, leading to anaemia from birth together with iron build-up in the liver.

Genes analysed

Also known as

AHMIO1; anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1; hypochromic microcytic anaemia with iron overload; hypochromic microcytic anemia with iron overload; microcytic anaemia and hepatic iron overload; microcytic anemia and hepatic iron overload

MONDO:0008787OMIM 206100Orphanet 83642MedGen 812483

Other hematological conditions

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