"How to Identify Childhood Thalassemia?"

Thalassemia: A Comprehensive Guide

Thalassemia, generally referred to as thalassemia or globin synthesis disorder anemia, is a genetic disease characterized by impaired synthesis of one or more normal hemoglobin peptide chains in children. Diagnosis of this condition in children can be made through assessing their specific symptoms, distinctive facial features, other notable manifestations, and laboratory tests.

1. Specific Manifestations:

Children with thalassemia often exhibit symptoms such as pale skin, fatigue, lethargy, dizziness, protrusion of the precordial region, a depressed nasal bridge, widened ocular distance (giving a special facial appearance), pale lemon-colored spots on the skin and mucous membranes, white patches on the oral mucosa, and hepatosplenomegaly (enlarged liver and spleen). Some children may also experience skeletal changes like pectus carinatum (pigeon breast) and rib flaring.

2. Distinctive Facial Features:

Children with thalassemia may present with unique facial characteristics including depressed zygomatic bones, a concave nasal bridge, widened ocular distance, asymmetrical nasal bridge development, and jaundice in the conjunctiva.

3. Other Notable Manifestations:

Additional symptoms of thalassemia in children include hepatomegaly, splenomegaly, ascites (fluid accumulation in the abdomen), and cardiomegaly (enlarged heart).

4. Laboratory Tests:

Laboratory evaluation typically reveals a decrease in hemoglobin levels and may show a reduction in all three types of blood cells: thrombocytopenia (low platelet count), leucopenia (low white blood cell count), and anemia (low red blood cell count). Furthermore, there is evidence of active bone marrow proliferation, particularly of mature red blood cells, with hemoglobin concentrations ranging from 8-12g/L and blood smears displaying microcytic (small) red blood cells.

If your child exhibits any of these symptoms, prompt medical attention and appropriate blood tests, including a complete blood count, are recommended. Upon confirmation of thalassemia, treatments such as deferoxamine and deferiprone may be prescribed under medical supervision.