Patient's question:
Girl, born on 2009-01-12, diagnosed with "neonatal anemia." On October 5, she was informed again of "anemia" due to fever. From December 2009 to May 2010, she intermittently received supplements of "Folic Acid" and "Vitamin B12." From May to June 2010, she visited Beijing Children's Hospital and Peking Union Medical College Hospital, where the possibility of "thalassemia" was considered. In June 2013, a follow-up examination at Peking University First Hospital also considered the possibility of "thalassemia" and recommended further examination in the south.Doctor's answer:
Hello! After reviewing the information about your child, the current diagnosis under consideration is: alpha-thalassemia. Compared to children of the same age, this child has normal levels of HbF and HbA2, slightly elevated HbH, and presents with typical microcytic hypochromic anemia, though the severity of the anemia is mild. Iron metabolism, as well as folate and Vit B12 levels, are normal, ruling out nutritional anemia. The specific type of alpha-thalassemia—whether it is a carrier, thalassemia trait, or HbH disease—requires further related tests for confirmation.Recommendations:
1. Conduct alpha-thalassemia gene testing for the child and both parents. One parent should have the same gene mutation or deletion, consistent with the genetic inheritance pattern of alpha-thalassemia.
2. Regularly monitor the child’s blood routine every 3 months to 6 months to observe fluctuations in Hb levels.
3. Perform Hb electrophoresis every 6 months to 1 year to monitor changes in HbH levels. When conducting a blood routine examination, observe whether HbH inclusions are present in the red blood cells.
4. Pay attention to avoiding infections, fever, and other conditions, as these can cause the child’s Hb levels to drop more rapidly in the presence of the disease.
The child has an enlarged liver, but there is no comparison of its size over time. Theoretically, the spleen enlargement is more pronounced than liver enlargement. Based on the current condition of the child, the likelihood of thalassemia trait is high. This is a common genetic disease with higher incidence rates in Guangdong, Guangxi, Sichuan, Hunan, and other regions in China. It is caused by impaired synthesis of alpha-globin chains, leading to hemolytic anemia.
Children with thalassemia trait or thalassemia minor do not require blood transfusions and can be closely followed up. Parents should not be overly anxious. In daily life, avoid infections and other conditions. If Hb levels drop too quickly, it is recommended to seek timely medical attention at the hematology outpatient clinic.