Symptoms of Thalassemia in Infants: What Parents Need to Know

Thalassemia is a genetic blood disorder that affects hemoglobin production, and when it occurs in infants, it can lead to a range of health complications. One of the most common forms seen in babies is characterized by microcytic hypochromic anemia—a condition where red blood cells are smaller and paler than normal due to reduced hemoglobin levels.

Recognizing the Early Signs

Infants with thalassemia often exhibit symptoms that closely resemble iron deficiency anemia, making early diagnosis challenging. Common indicators include chronic fatigue, pale skin, and poor feeding. However, unlike typical nutritional anemia, thalassemia is inherited and cannot be corrected with dietary changes or iron supplements alone.

Physical and Clinical Manifestations

In more noticeable cases, babies may develop jaundice—yellowing of the skin and eyes—caused by the rapid breakdown of abnormal red blood cells. This hemolysis can also lead to hepatosplenomegaly, an enlargement of the liver and spleen, as these organs work overtime to filter out damaged cells.

Diagnostic Approaches for Infant Thalassemia

To confirm a diagnosis, healthcare providers rely on comprehensive hematological testing. A complete blood count (CBC) typically reveals normal or decreased hemoglobin levels alongside elevated or normal reticulocyte counts, indicating the body's attempt to produce more red blood cells.

Key laboratory findings include:

• Abnormal red blood cell morphology, such as target cells (cells with a bullseye appearance)
• Reduced osmotic fragility—the red blood cells are more resistant to bursting in hypotonic solutions
• Anisocytosis and poikilocytosis—variations in red blood cell size and shape

Bone Marrow and Hemoglobin Analysis

Bone marrow examination often shows hypercellularity with erythroid hyperplasia, meaning there is increased activity in the red blood cell-producing lineage. Additionally, hemoglobin electrophoresis plays a crucial role in identifying abnormal hemoglobin variants, such as elevated HbA2 or HbF levels, which are hallmark signs of thalassemia traits or disease.

Early detection through newborn screening programs and genetic counseling for at-risk families can significantly improve long-term outcomes. With proper medical management—including possible blood transfusions, iron chelation therapy, and in severe cases, stem cell transplantation—children with thalassemia can lead healthier, more active lives.