SNP Shot: Genomic Insights

Iron-refractory iron deficiency anemia is a specific type of anemia, a broader category of disorders defined by a lack of sufficient healthy red blood cells. This deficiency hinders the blood's ability to effectively transport oxygen to the body's tissues.

This particular type of anemia, iron-refractory iron deficiency anemia, arises from a lack of iron in the blood. The term "iron-refractory" signifies that the condition does not respond to oral iron supplements and shows limited improvement with other iron administration methods, like intravenous (IV) infusions. Individuals with this anemia have abnormally small (microcytic) and pale (hypochromic) red blood cells. Common symptoms include fatigue, weakness, and pale skin, along with potential other complications. While symptoms are often mild, they are most noticeable during childhood. Typically, affected individuals experience normal growth and development.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that both copies of the responsible gene within each cell must carry a mutation for the condition to manifest. Individuals inheriting one mutated copy of the gene from each parent are considered carriers, and generally do not exhibit any signs or symptoms of the condition.