SNP Shot: Genomic Insights

Hypochromic microcytic anemia with iron overload is a disorder disrupting the normal delivery of iron into cells. Iron is vital for hemoglobin, the protein in red blood cells responsible for oxygen transport throughout the body. In this condition, red blood cells are unable to utilize iron from the blood, leading to reduced red blood cell production (anemia) evident from birth. The resulting red blood cells are unusually small (microcytic) and pale (hypochromic). These characteristics can manifest as pale skin (pallor), fatigue, and slowed growth.

In hypochromic microcytic anemia with iron overload, unused iron accumulates within the liver, potentially causing liver dysfunction over time. These liver issues usually become noticeable during adolescence or early adulthood.

Inheritance:

The condition follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must carry mutations for the condition to develop. Individuals with autosomal recessive disorders inherit one mutated gene copy from each parent. While carrying the mutated gene, the parents typically do not exhibit any symptoms of the condition.