Does this child have both beta and alpha thalassemia trait?

Professor Emeritus of Pediatrics at the University of California San Francisco

This month, William C. Mentzer, MD, offers his advice about a pediatric patient with possible beta and alpha thalassemia trait.

CLINICAL DILEMMA

I have a 6-year-old, Indian male patient with normal hemoglobin (Hgb) and reticulocytes but with microcytosis (64) and an Hgb electrophoresis as follows: hgb electrophoresis A 92.2% (Low), A2 4.6% (High), F 3.2% (High). Alpha thalassemia gene testing shows one alpha gene deletion. Does this child have both beta and alpha thalassemia trait? How can I tell?

EXPERTS MAKE THE CALL

Your patient indeed has both beta and alpha thalassemia. The high A2 and F in the presence of microcytosis confirm the presence of beta thalassemia trait (possibly deletional–beta thalassemia since both A2 and F are high). The single alpha gene deletion would be clinically silent if inherited in isolation. When found along with diminished beta globulin in production as in your patient, it should minimize the imbalance in production of alpha and beta globulin in chains, thus reducing clinical severity. Perhaps this is why your patient has no anemia.

Both alpha and beta thalassemia are common in India. I suggest that you consider family studies to provide appropriate genetic counseling.

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