What is a prominent feature of Maternal Epsilon Beta-thalassemia?

A prominent feature of Maternal Epsilon Beta-thalassemia is the presence of a high concentration of fetal hemoglobin (HbF). This condition is characterized by the production of fetal hemoglobin at levels that replace normal adult hemoglobin (HbA). In cases of epsilon beta-thalassemia, the impairment in the production of beta-globin chains leads to an increase in the amount of HbF since the fetal hemoglobin comprises two alpha and two gamma chains.

The dominance of HbF can be significant, especially during pregnancy, as it helps to maintain adequate oxygen delivery to the fetus despite the underlying thalassemia. In this context, measuring the levels of HbF can provide insights into the severity of the condition and the effectiveness of oxygen transport.

While high levels of HbA2 can be observed in beta-thalassemia, this is not the hallmark of maternal epsilon beta-thalassemia. Similarly, the presence of 100% HbA would indicate a lack of thalassemia, and low fetal hemoglobin levels would not align with the findings typically associated with this condition. Hence, the increased fetal hemoglobin levels are a defining characteristic of maternal epsilon beta-thalassemia.