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Does this child have both beta and alpha thalassemia trait?

December 30, 2021
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[td_block_51 custom_title="" cstm_author_id="William C. Mentzer, MD"]

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

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?

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. How did readers respond? Check out You MADE the Call.

Disclaimer: ASH does not recommend or endorse any specific tests, physicians, products, procedures, or opinions, and disclaims any representation, warranty, or guaranty as to the same. Reliance on any information provided in this article is solely at your own risk.

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