[N A J Med Sci. 2017;10(1):1-4. DOI: 10.7156/najms.2017.1001001]
Jessenia Guerrero, MD; Oliver Cai; Shahida Ahmed, MD; Donghong Cai, MD, PhD
Alpha-thalassemia is one of the most common hemoglobin genetic abnormalities. The primary defect is the reduced or absent production of the alpha globin chains, which underlines 4 clinical conditions: 1) alpha+-thalassemia (loss of one alpha globin), 2) alpha0-thalassemia (loss of 2 alpha globins), 3) HbH disease (loss of 3 alpha globins), and 4) Hb Bart hydrops fetalis syndrome (loss of all alpha globins). Among the anemic US veteran patients, one subpopulation defies extensive workup and remains etiology unknown (normal status of iron, VitB12, and Folate, normal hemoglobin HPLC pattern, etc.). Here we present the data of alpha-thalassemia DNA analysis in this subpopulation. 156 patients were analyzed of the alpha-globin gene locus by multiplex ligation-dependent probe amplification (LabCorp, RTP, NC). The prevalence of alpha0-thalassemia was 5%, alpha+-thalassemia 26%, and negative 69%. We believe alpha-thalassemia DNA analysis might be a useful test choice in mild anemic patients with uncertain etiology.
Key Words: alpha-thalassemia, alpha-globin DNA analysis, multiplex ligation-dependent probe amplification
Jessenia Guerrero, MD;1 Oliver Cai;2 Shahida Ahmed, MD;3 Donghong Cai, MD, PhD3*
1 Department of Pathology, Rutgers New Jersey Medical School Newark, NJ
2 Stuyvesant High School, 345 Chambers St, New York, NY
3 Pathology and Lab Medicine Service, VA New Jersey Medical Center, East Orange, NJ
CONFLICT OF INTEREST
The authors disclaim no conflict of interests.