Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production, leading to reduced oxygen-carrying capacity of red blood cells. While symptoms of thalassemia can vary depending on the severity of the condition, early detection is crucial for timely intervention and management. Here are some early signs of thalassemia shared by Dr Sheetal Sharda, Clinical Geneticist, Director-Clinical Genomics Development and Implementation,Neuberg Centre for Genomic Medicine that parents should watch out for:
Fatigue and Weakness
Children with thalassemia may experience persistent fatigue and weakness due to inadequate oxygen delivery to tissues and organs. They may appear lethargic, have low energy levels, and tire easily, even with minimal physical activity.
Pale Skin
Anemia, a common complication of thalassemia, can cause pale or yellowish skin, particularly noticeable in the face, lips, and nail beds. Pale skin may indicate reduced red blood cell production or hemolysis (destruction of red blood cells).
Delayed Growth and Development
Thalassemia can affect normal growth and development in children, leading to delayed milestones such as walking, talking, and puberty. Growth retardation may result from chronic anemia and reduced oxygen supply to tissues, impairing cellular metabolism and tissue repair.
Jaundice
Excessive breakdown of red blood cells can cause jaundice, characterized by yellowing of the skin and eyes due to elevated levels of bilirubin in the bloodstream. Jaundice may occur intermittently or persistently in individuals with thalassemia, indicating ongoing hemolysis and liver dysfunction.
Enlarged Spleen and Liver
Thalassemia can lead to splenomegaly (enlarged spleen) and hepatomegaly (enlarged liver) due to increased production of red blood cells by the spleen and liver in response to chronic anemia. Enlarged abdominal organs may cause discomfort, pain, or a feeling of fullness in the upper abdomen.
Bone Deformities
Severe forms of thalassemia, such as thalassemia major or Cooley’s anemia, can result in skeletal abnormalities and bone deformities, particularly in the face, skull, and long bones. Bone marrow expansion due to increased red blood cell production may lead to facial bone protrusions, frontal bossing (prominent forehead), and abnormal bone growth.
Frequent Infections
Children with thalassemia are at increased risk of infections due to impaired immune function resulting from chronic anemia and splenic dysfunction. They may experience recurrent bacterial infections, respiratory infections, or viral illnesses, requiring prompt medical attention and antibiotic treatment.
Dark Urine
Hemolysis and jaundice associated with thalassemia can cause dark-colored urine due to the presence of excess bilirubin and hemoglobin breakdown products. Parents should watch for changes in urine color and report any abnormalities to their healthcare provider.
It’s important to note that the severity and presentation of thalassemia can vary widely, depending on the specific type of thalassemia and individual factors. Early detection through newborn screening programs and genetic testing is essential for identifying infants at risk of thalassemia and initiating appropriate management strategies, including regular blood transfusions, iron chelation therapy, and supportive care to optimize quality of life and long-term outcomes. Parents should consult with a pediatrician or hematologist if they observe any concerning signs or symptoms suggestive of thalassemia in their child.