Iron deficiency anemia is a common entity, encompassing approximately 50% of all anemia cases worldwide.1 Its etiology is frequently related with blood loss or gastrointestinal malabsorption.2 The increasing number of genetic etiologies related with this anemia such as aceruloplasminemia, ferroportin-1 disease, and hipotransferrinemia requires them to be considered in its differential diagnosis.3 The gene discussed is SLC40A1; the disease is anemia (phenotype).