A structured approach to iron refractory iron deficiency. Aside from circulating red blood cells, the major location of iron in the body is the storage pool as ferritin or as hemosiderin in macrophages. The principles of diagnosis and management in iron deficiency anemia ida are well established and have been defined in a number of detailed guidelines and. About 4% to 6% of patients with obscure refractory ida have. Some patients, however, respond poorly to iron supplements and are diagnosed as having iron refractory iron deficiency anemia. Patients have hypochromic microcytic anemia refractory to oral iron and are only partially responsive to parenteral iron administration. Practice guidelines for the diagnosis and man agement of microcytic anemias due to. Ironrefractory iron deficiency anemia irida is an inherited disorder of systemic iron balance in which both absorption and utilization of iron are impaired. Ironrefractory iron deficiency anemia genetic and rare. Iron refractory iron deficiency anemia dutch hematology congress. Deficiency of tmrrss6 is an autosomal recessive disorder called iron refractory iron deficiency anemia irida. Ironrefractory 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. Clinical presentation iron refractory iron deficiency anemia can present with various clinical and laboratory characteristics. Apr 07, 2016 iron deficiency anemia is the most common form of anemia in the world.
Pdf ironrefractory iron deficiency anemia researchgate. Ironrefractory iron deficiency anemia irida is a rarely diagnosed autosomal recessive disorder that presents with hypochromic, microcytic anemia due to mutations in tmprss6, which encodes. Infants between the ages of six months and two years are at a high risk of developing ida 2. In people with this form of anemia, red blood cells are abnormally small microcytic and pale hypochromic. In patients referred for hematologic evaluation with unexplained or refractory ida, screening for celiac disease, autoimmune gastritis, helicobacter pylori, and hereditary forms of ida is recommended. The study of genetic conditions such as hemochromatosis and ironrefractory iron deficiency anemia irida has provided crucial insights into the molecular. Iron deficiency blood american society of hematology. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized.
Introduction iron deficiency anaemia ida is the most common nutritional deficiency which represents a major public health problem worldwide 1. After exclusion of dietary and gastrointestinal causes of iron deficiency, a genetic cause for iron deficiency was confirmed by finding two mutations in the tmprss6 gene, consistent with a diagnosis of iron refractory iron deficiency anaemia irida. Nov 27, 2017 children with iron refractory iron deficiency anemia irida usually do not respond to oral iron therapy. Anemia is defined as a decrease in the number of red blood cells or the amount of hemoglobin in the blood. Iron deficiency anemia low transferrin saturation, and a high total iron binding capacity. Much is still unknown about its pathophysiology, genotype phenotype correlation, and optimal clinical management. In this issue, bhatia et al 2017 report a study from india in which iron deficiency anaemia was found to be resistant to oral iron therapy in over. This protein is a transmembrane serine protease that plays an. The diagnosis of iron deficiency is a major public health goal and an important aspect of the care of many adults. While iron deficiency anemia is generally an acquired disease and due to insufficient iron in the childs diet or chronic blood loss, children with irida. This autosomal recessive disorder is characterized.
Iron refractory iron deficiency anemia irida is a relatively recently described autosomal recessive condition that results from mutations in tmprss6 gene. Iron deficiency anemia occurs when red blood cell counts are low due to a lack of iron. Iron refractory iron deficiency anemia in dizygotic twins due. The most common causes of ida include insufficient dietary intake coupled with rapid growth, prematurity and excessive consumption of cows milk. Children with irida have too little iron in their blood, which causes their red blood cells to be small microcytic and pale hypochromic. Mutations in tmprss6 cause ironrefractory iron deficiency. Contrastingly, ferritin levels are usually within the normal range or high after therapy. A heterogeneous disease that is not always iron refractory. How i treat unexplained refractory iron deficiency anemia. This is a rare genetic disease, linked to mutations of the tmprss6 gene, encoding the serine protease matriptase 2.
The study of genetic conditions such as hemochromatosis and iron refractory iron deficiency anemia irida has provided crucial insights into the molecular mechanisms controlling iron homeostasis. Ironrefractory iron deficiency anemia results from an inadequate amount deficiency of iron in the bloodstream. Iron deficiency is the most common cause of anemia worldwide. Pdf iron refractory iron deficiency anemia researchgate. Ironrefractory iron deficiency anemia sciencedirect. A structured approach to iron refractory iron deficiency anemia. Ironrefractory iron deficiency anemia europe pmc article.
Ironrefractory iron deficiency anemia journalagent. The prevalence of iron deficiency anemia is 2 percent in adult men, 9 to 12 percent in nonhispanic white women, and nearly 20 percent in black and mexicanamerican women. This shortage prevents the blood from carrying an adequate supply of oxygen to the bodys tissues. The condition exacerbates esrd but its underlying mechanism was unclear. Iron deficiency anemia ida is a common form of anemia in infancy and childhood. The symptoms of ironrefractory iron deficiency anemia can include tiredness fatigue, weakness, pale skin, and other complications.
Ironrefractory iron deficiency anemia irida is a rare, inherited form of iron deficiency anemia. Ironrefractory iron deficiency anemia may not lead to. Iron refractory iron deficiency anemia irida is an autosomal recessive ferropenic anemia. In children with a rare, inherited version of iron deficiency anemia ironrefractory iron deficiency anemia irida the child is born with a gene mutation that causes iron deficiency, and may require regular intravenous iron infusions. It is associated with serious health risks including abnormal mental and motor development in infancy, impaired work capacity, increased risk of premature delivery, and, in severe anemia, increased maternal and infant mortality. Nov 27, 2017 iron refractory iron deficiency anemia irida is a type of iron deficiency anemia that typically does not improve with oral iron treatment. Oral or parental iron supplements usually are effective in treating iron deficiency anemia.
Donker ae, schaap cc, novotny vm, smeets r, peters tm, et al. Totalbody absolute iron deficiency is caused by physiologically increased iron requirements in children, adolescents, young and pregnant women, by reduced iron intake, or by pathological defective absorption or chronic blood loss. Iron refractory iron deficiency anemia irida is an autosomal recessive disorder characterized by iron deficiency anemia unresponsive to oral iron treatment but partially responsive to parenteral iron therapy. Novel tmprss6 mutations associated with iron refractory iron. Iron refractory iron deficiency anemia irida is an autosomal recessive disorder caused by mutations in tmprss6. This disease is characterized by microcytic, hypochromic anemia and serum hepcidin values that are inappropriately high for body iron levels. Iron deficiency anemia current medical diagnosis and. We report a frenchcanadian kindred in which 2 siblings presented in early childhood with severe microcytic anemia, hypoferremia, and. Apr, 2008 iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Iron refractory iron deficiency anemia irida is a hereditary autosomal recessive anemia.
The anemia tends to be mild to moderate, but without enough healthy red blood cells, different parts of the body do not get enough oxygen. Iron refractory iron deficiency anemia irida matriptase2 is a serine protease encoded by tmprss6 gene, whose function is important for intestinal iron absorption. Similarly, there is a discrepancy in the response to treatment among patients. What is the treatment for ironrefractory iron deficiency. Microcytic anemia ironrefractory iron deficiency anemia. Iron deficiency anemia in children danafarberboston. However, individuals with irida are usually diagnosed during childhood.
Refractory anemia, an anemia which does not respond to treatment, is often seen secondary to myelodysplastic syndromes. Ironrefractory iron deficiency anemia irida is a type of iron deficiency anemia that typically does not improve with oral iron treatment. Soluble transferrin receptor and erythrocyte protoporphyrin testing. We describe the case of a 17monthold boy with a hypochromic microcytic anaemia, refractory to oral iron treatment. Ironrefractory irondeficiency anemia irida is an autosomal reces sive disorder caused by mutations in tmprss6. Iron refractory iron deficiency anemia irida is an autosomal recessive disorder characterized by iron deficiency anemia unresponsive to oral iron treatment but partially responsive to parenteral. Iron deficiency anemia that is unresponsive to oral iron treatment, in most cases referring to the genetic disease caused by a mutation in tmprss6, the gene encoding transmembrane protease, serine 6, also known as matriptase2. Iron refractory iron deficiency anemia american academy of. Studies to elucidate those mechanisms are underway. Recently a genetic recessive form of iron refractory iron deficiency anemia irida, due to constitutively high hepcidin levels. Pdf iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the tmprss6 gene encoding matriptase2. Ironrefractory iron deficiency anemia genetics home.
However, some children with irida may partially respond to high doses of oral iron, prolonged oral iron therapy, or oral iron therapy combined with vitamin c. Iron deficiency is one of the most common nutritional problems of the human race. Iron deficiency anemia is anemia caused by a lack of iron. Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the tmprss6 gene encoding matriptase2.
Iron refractory iron deficiency anemia irida e91 introduction iron deficiency anemia is the most common form of anemia worldwide, usually secondary to inadequate dietary intake, chronic blood loss or malabsorption. Ironrefractory iron deficiency anemia irida is a hereditary disorder marked by with iron deficiency anemia that is typically unresponsive to oral iron. Iron refractory iron deficiency anemia irida is a relatively recently. Feb 15, 2015 iron refractory iron deficiency anemia can present with various clinical and laboratory characteristics. 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. A proposed algorithm for the management of iron deficiency anemia ida. Treatment of iron deficiency in adults is discussed separately. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline. Its hypochromic microcytic pattern is associated with low transferrin saturation, normalhigh ferritin, and inappropriately high hepcidin level. Tmprss6 encodes matriptase2, a transmembrane serine. How i treat unexplained refractory iron deficiency anemia blood. More severe iron deficiency may be treated with iv iron or even blood transfusion. However, the elucidation of systemic iron homeostasis has led to the recognition of a rare autosomal recessive disorder, iron refractory iron deficiency anemia irida online mendelian. What is ironrefractory iron deficiency anemia irida.
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