From the Guidelines
Microcytic hypochromic anemia is primarily caused by genetic disorders of iron metabolism or heme synthesis, excluding common causes like iron deficiency, thalassemias, and anemia of chronic disease. The management of microcytic hypochromic anemia depends on the underlying cause, and treatment options may include erythrocyte transfusions, iron chelation, and erythropoietin (EPO) therapy 1.
Causes of Microcytic Hypochromic Anemia
- Genetic disorders of iron metabolism, such as STEAP3 defects
- Inherited defects in heme synthesis, such as those affecting the TMPRSS6 gene
- Other rare genetic disorders affecting iron metabolism or heme synthesis
Management of Microcytic Hypochromic Anemia
- Erythrocyte transfusions in combination with EPO may be used to treat patients with hypochromic anemia due to STEAP3 defects 1
- Iron chelation therapy may be necessary to treat systemic iron loading
- Diagnostic workup should include complete blood count, peripheral smear, iron studies, and genetic analysis to determine the underlying cause of the anemia
Diagnostic Approach
- Exclude common causes of microcytic anemia, such as iron deficiency, thalassemias, and anemia of chronic disease
- Evaluate patients for symptoms such as photosensitivity, neurological disease, and isolated ataxia
- Measure ferritin, TSAT, and other iron parameters to assess iron status
- Perform genetic analysis to identify specific genetic disorders affecting iron metabolism or heme synthesis 1
From the Research
Causes of Microcytic Hypochromic Anemia
- Iron deficiency anemia, which is the most common cause of microcytic hypochromic anemia, accounting for approximately 80% of all anemia cases worldwide 2, 3, 4, 5
- Anemia of chronic disorders (ACD), which is caused by a disturbance of iron utilization, leading to functional iron deficiency 2
- Thalassemia, a genetic disorder affecting hemoglobin synthesis 2, 4, 5, 6
- Sideroblastic anemia, a disorder characterized by the presence of ringed sideroblasts in the bone marrow 5, 6
- Congenital disorders, such as sickle cell anemia and hemoglobinopathy E 4, 5, 6
Management of Microcytic Hypochromic Anemia
- Oral iron supplementation, which is the standard treatment for iron deficiency anemia 2, 3, 4, 5
- Intravenous iron application, which is reserved for patients who cannot absorb iron or have severe iron deficiency anemia 2, 3, 5
- Elimination of the underlying chronic disorder, which is the best treatment for ACD 2
- Red blood cell transfusions, erythropoietin, and intravenous iron, which are used therapeutically in cases of persistent ACD 2
- Iron chelation, which may be required for patients with thalassemia and other inherited disorders 4, 6