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Iron-refractory iron deficiency anemia
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Reviewed July 2014
What is iron-refractory iron deficiency anemia?
Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.
Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as "iron-refractory" because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.
How common is iron-refractory iron deficiency anemia?
Although iron deficiency anemia is relatively common, the prevalence of the iron-refractory form of the disease is unknown. At least 50 cases have been described in the medical literature. Researchers suspect that iron-refractory iron deficiency anemia is underdiagnosed because affected individuals with very mild symptoms may never come to medical attention.
What genes are related to iron-refractory iron deficiency anemia?
Mutations in the TMPRSS6 gene cause iron-refractory iron deficiency anemia. This gene provides instructions for making a protein called matriptase-2, which helps regulate iron levels in the body. TMPRSS6 gene mutations reduce or eliminate functional matriptase-2, which disrupts iron regulation and leads to a shortage of iron in the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen. When not enough iron is available in the bloodstream, less hemoglobin is produced, causing red blood cells to be abnormally small and pale. The abnormal cells cannot carry oxygen effectively to the body's cells and tissues, which leads to fatigue, weakness, and other symptoms of anemia.
Read more about the TMPRSS6 gene.
How do people inherit iron-refractory iron deficiency anemia?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of iron-refractory iron deficiency anemia?
These resources address the diagnosis or management of iron-refractory iron deficiency anemia and may include treatment providers.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about iron-refractory iron deficiency anemia?
You may find the following resources about iron-refractory iron deficiency anemia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for iron-refractory iron deficiency anemia?
What if I still have specific questions about iron-refractory iron deficiency anemia?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding iron-refractory iron deficiency anemia?
anemia ; autosomal ; autosomal recessive ; cell ; deficiency ; gene ; hemoglobin ; hereditary ; hypochromic ; inherited ; iron ; metabolism ; molecule ; oxygen ; prevalence ; protein ; recessive ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.