Mediterranean Anemia: Understanding Blood Test Characteristics and Differentiation from Iron Deficiency

Key Hematological Features of Mediterranean Anemia

Small, Pale Red Blood Cells Indicate Underlying Disorder

Mediterranean anemia, also known as thalassemia, is primarily characterized by microcytic hypochromic anemia. This means that red blood cells (RBCs) are smaller than normal (microcytic) and contain less hemoglobin, giving them a paler appearance under the microscope (hypochromic). These abnormalities stem directly from defects in hemoglobin synthesis—a core component of red blood cell structure and function.

The genetic mutation responsible for thalassemia disrupts the production of globin chains in hemoglobin, leading to imbalanced protein formation. As a result, red blood cells fail to mature properly, reducing their size and limiting hemoglobin content. This structural deficiency not only affects oxygen transport but also shortens the lifespan of RBCs, contributing to chronic anemia.

Distinguishing Thalassemia from Iron Deficiency Anemia

While both thalassemia and iron deficiency anemia present with similar blood test patterns—small and pale red blood cells—they have vastly different causes and treatment approaches. Iron deficiency anemia results from insufficient iron intake, poor absorption, or blood loss, whereas thalassemia is an inherited genetic disorder.

In regions where thalassemia is more prevalent—such as Southern China, including Guangdong, Guangxi, Fujian, and Hainan provinces—it's crucial to differentiate between the two conditions. Misdiagnosis can lead to inappropriate treatments; for example, unnecessary iron supplementation in thalassemia patients may cause iron overload and organ damage.

Diagnostic Clues and Laboratory Evaluation

Beyond standard complete blood count (CBC) results, additional tests help clarify the diagnosis. Patients with thalassemia often show elevated levels of red blood cell distribution width (RDW) alongside a disproportionately high RBC count relative to the degree of anemia—a clue not typically seen in iron deficiency.

Further evaluation may include peripheral blood smear analysis, which reveals target cells and basophilic stippling, as well as hemoglobin electrophoresis to detect abnormal hemoglobin variants like HbH or increased HbA2 levels—key markers in beta-thalassemia trait identification.

Public Health Importance and Screening Recommendations

Given its hereditary nature and regional prevalence, population-based screening programs play a vital role in early detection and genetic counseling. In high-risk areas, routine blood testing during prenatal care and premarital health checks can significantly reduce the incidence of severe thalassemia in newborns.

Healthcare providers should maintain a high index of suspicion when interpreting CBC results in at-risk populations. Recognizing the subtle differences in hematological profiles allows for timely referral, accurate diagnosis, and appropriate management—improving long-term outcomes for individuals and families affected by this condition.