Abstract
A pregnant couple presented for evaluation of possible alpha thalassemia trait. Because both prospective parents were of Egyptian ancestry, routine screening for thalassemia trait was indicated. Hematologic testing showed that the mother was microcytic [mean red-cell volume (MCV) 75 fL] with a HbA2 fraction of 2.5% and a normal hemoglobin electrophoresis. The father had a similar picture (MCV 77 fL, HbA2 2.3%, normal hemoglobin electrophoresis). Iron studies were normal, and the normal HbA2 results effectively ruled out beta thalassemia trait. DNA testing for alpha thalassemia was therefore performed, but both parents were negative for six common deletional mutations that cause most cases of alpha thalassemia.
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© 2011 Springer-Verlag Berlin Heidelberg
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Pritchard, C.C., Tait, J.F. (2011). Alpha Thalassemia. In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_3
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DOI: https://doi.org/10.1007/978-3-642-19677-5_3
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