Question

A girl was diagnosed with neonatal anemia at birth on January 12, 2009. Between May and June 2010, she sought medical attention at Beijing Children’s Hospital and Beijing United Family Hospital for fever and anemia symptoms, and it was considered that she might have Mediterranean anemia. In June 2013, during a follow-up examination at Peking University First Hospital, she was again suspected of having Mediterranean anemia, and it was suggested that she undergo further checks in the south.

Answer

Hello! Based on the provided information, the current consideration is for a diagnosis of alpha Mediterranean anemia. The child’s HbF and HbA2 levels are normal, with slightly elevated HbH levels, showing typical small cell hypochromic anemia, but with a relatively mild degree of anemia. Iron metabolism and levels of folic acid and vitamin B12 are normal, and nutritional anemia is not considered. To determine the exact type of alpha Mediterranean anemia, such as silent carrier, alpha Mediterranean anemia trait, or HbH type, further relevant examinations are needed. Recommendations include:

  1. Conduct alpha Mediterranean anemia genetic testing for the child and both parents, with one parent having the same genetic mutation or deletion, which conforms to the inheritance pattern of the pathogenic genes of alpha Mediterranean anemia.
  2. Regularly monitor blood routine for the child every three months to six months, observing the fluctuations in hemoglobin levels.
  3. Perform Hb electrophoresis every six months to one year for the child to observe changes in HbH levels, and observe for the presence of HbH in red blood cells during blood routine checks.