What is thalassemia in children?

Thalassemia is a genetic blood disorder characterized by abnormal production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. It is typically inherited from parents who carry the thalassemia gene.

In children with thalassemia, there is a defect in the production of either alpha or beta globin chains, which are components of hemoglobin. This results in a reduced ability of red blood cells to carry oxygen efficiently, leading to anemia.

The severity of thalassemia can vary from mild to severe, depending on the specific genetic mutations involved. There are two main types of thalassemia:

1. Alpha thalassemia: This occurs when there is a problem with the production of alpha globin chains. The severity of alpha thalassemia can range from silent carriers (asymptomatic) to a condition called hemoglobin H disease, which can cause moderate to severe anemia.

2. Beta thalassemia: This occurs when there is a defect in the production of beta globin chains. The severity of beta thalassemia can range from thalassemia minor (mild anemia) to thalassemia major or Cooley’s anemia (severe anemia). Children with thalassemia major require regular blood transfusions and ongoing medical management.

Children with thalassemia may exhibit symptoms such as fatigue, weakness, pale skin, delayed growth and development, jaundice, and an enlarged spleen. They may also be more susceptible to infections due to their weakened immune system.

The diagnosis of thalassemia in children involves blood tests to assess the levels of different types of hemoglobin and genetic testing to identify specific mutations. Treatment for thalassemia may include blood transfusions to alleviate anemia, iron chelation therapy to manage iron overload resulting from frequent transfusions, and in some cases, bone marrow transplantation, which can be curative.

Ask your primary care physician or pediatrician: They may have recommendations for thalassemia specialists or hematologists who specialize in pediatric blood disorders. They can provide you with referrals and guide you in finding the right specialist.

Reach out to larger hospitals or medical centers in your area that have a dedicated pediatric department or a specialized hematology department. Inquire about thalassemia specialists who treat children and ask for recommendations.

It is important for children with thalassemia to receive ongoing medical care and support from a multidisciplinary team of healthcare professionals, including hematologists, pediatricians, and genetic counselors, to manage their condition effectively and improve their quality of life.