College of Osteopathic Medicine Faculty Articles

Title

Detection of Alpha-Thalassemia Gene Mutations using the Mean Corpuscular Hemoglobin."

Publication Title

Obstetrics and Gynecology- The Green Journal

Abstract

Objective: To determine the utility of the mean corpuscular hemoglobin (MCH) as a screening modality for prenatal diagnosis of Alpha thalassemia (α-thalassemia) Methods: We reviewed eighty-eight charts of pregnant women in a large Community Health Center in Miami, Florida who underwent DNA analysis for α-globin gene mutations from June 2010 to February 2012 and compiled a database of each patient’s hemoglobin (Hb) electrophoresis, mean corpuscular volume (MCV), MCH and DNA analysis. Results: Forty-five of the 88 patients had α-globin gene mutations. Approximately nine (20%) of these patients had normal MCV (80-100 fL), normal Hb electrophoresis but low MCH (<27 pg). All patients in our study were carriers of a single α-globin gene mutation. Conclusion: Results suggest that the MCH can be a valuable indicator for including in the screening for α-globin gene mutations in pregnant women. Further population-based studies should be conducted to determine if the addition of MCH in combination with the MCV and Hb electrophoresis is a more sensitive screening combination than the current recommended combination.

Disciplines

Medical Specialties | Medicine and Health Sciences | Osteopathic Medicine and Osteopathy

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