Trans type genotype alpha thalassemia trait: a case study.
This is a case of hypochromic, microcytic red cells in a young adult Caucasian female. It illustrates the importance of performing iron studies to confirm suspected iron deficiency anemia (IDA). Thalassemia minor is often misdiagnosed as IDA and iron therapy may be needlessly administered. Moreover, the patient will be unaware of an inherited hematological disorder which may require genetic counseling. alpha-thalassemia patients with the --/alphaalpha (cis) genotype should be advised of the risk for producing offspring with Hemoglobin H disease (genotype --/alpha-). In this case, DNA analysis confirmed the diagnosis of a trans type gene deletion alpha-thalassemia trait. Ancestry on the maternal side is German and French. On the paternal side the ancestry is Dutch and Scandinavian. Additionally, there was no knowledge of any family history of anemia on either the maternal or paternal side of the family. This case reaffirms that Anglo-Saxon ancestry does not preclude the diagnosis of alpha-thalassemia. It also supports the findings of Wang that when laboratory findings are suggestive of alpha-thalassemia minor, a moderately decreased MCV, slightly elevated red cell count, and the absence of hemoglobin H inclusions is probably indicative of trans rather than cis type gene deletion alpha-thalassemia trait.
Foley
Angela B
AB
Department of Clinical Laboratory Sciences, School of Allied Health Professions, Louisiana State University Health Sciences Center, 1900 Gravier Street, New Orleans, LA 70112, USA. afoley@lsuhsc.edu
Lawrence
Louann W
LW
D000328:Adult; D018798:Anemia, Iron-Deficiency / Q000175:diagnosis; D015139:Blotting, Southern; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006403:Hematologic Tests; D006801:Humans; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*