Iron deficiency anemia, refractory iron (Iron deficiency anemia-refractory iron) - Gen TMPRSS6.  

Deficiency anemia refractory iron Iron is one of the many types of anemia, characterized by a deficiency of healthy red blood cells. This deficiency prevents blood transport an adequate supply of oxygen to body tissues. It is described as "refractory iron" because anemia is totally refractory to treatment with orally administered iron and partially resistant iron administered by other routes, such as intravenous (IV). In people with this form of anemia, red blood cells are microcytic and hypochromic. Symptoms of deficiency anemia iron - refractory iron may include fatigue, weakness, pale skin, along with other signs and symptoms. These symptoms are more pronounced during childhood, although they tend to be mild. Usually, people affected have normal growth and development.

This process is due to mutations in the gene TMPRSS6, located on the long arm of chromosome 22 (22q12.3). This gene encodes matriptase-2 protein. This protein is part of a signaling pathway that controls concentrations another protein called hepcidin is a key regulator of iron balance in the body. When iron levels in the blood are low, this signaling pathway reduces the synthesis of hepcidin, allowing it to be absorbed more iron from the diet by gut and transported out of storage places, especially in the liver and spleen, in the bloodstream. Iron is an essential component of hemoglobin.

They have identified at least 40 TMPRSS6 gene mutations leading to deficiency anemia refractory to iron iron. These mutations greatly reduce the amount of matriptase-2 functional, preventing control hepcidin concentrations. As a result, the activity of hepcidin that blocks absorption of iron through the intestine and iron release from storage sites rises. When there is insufficient available iron in the bloodstream, less hemoglobin and erythrocytes occurs can not transport oxygen to the body tissues and cell efficiency. Lack of oxygen leads to the signs and symptoms of anemia, which can include fatigue, weakness and pale skin.

This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with deficiency anemia refractory iron to iron, by complete PCR amplification of exons TMPRSS6 gene, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).