Hypochromic microcytic anemia with iron overload (AHMIO) is a congenital (present at birth) disease affecting the transport of iron in cells. Iron is an important component of hemoglobin, which is what red blood cells use to carry oxygen. In AHMIO, red blood cells cannot access iron in the blood. When red blood cells cannot access iron, there is a decrease of red blood cell production, and the red blood cells that are produced are small and pale. This low count of healthy red blood cells (called anemia) is present at birth. The iron that the red blood cells cannot access collects in the liver. This can cause liver problems in childhood or early adulthood. Other symptoms of AHMIO include pale skin, tiredness, and delayed growth.
AHMIO is a genetic condition caused by mutations (changes) in the SLC11A2 gene. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. We inherit our genes in pairs, one from each parent typically. AHMIO is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.
AHMIO can be diagnosed by looking at clinical symptoms and through blood testing. Treatment for this condition may include blood transfusions in order to increase the amount of functional red blood cells and hemoglobin in the body. If you or a family member has been diagnosed with hypochromic microcytic anemia with iron overload, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Mar 09, 2018