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Related Experiment Videos

Trans type genotype alpha thalassemia trait: a case study.

Angela B Foley1, Louann W Lawrence

  • 1Department 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

Clinical Laboratory Science : Journal of the American Society for Medical Technology
|May 22, 2003
PubMed
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This case highlights that alpha-thalassemia trait can be misdiagnosed as iron deficiency anemia (IDA). Early diagnosis through DNA analysis is crucial for appropriate genetic counseling and preventing unnecessary iron therapy.

Area of Science:

  • Hematology
  • Medical Genetics

Background:

  • Iron deficiency anemia (IDA) is a common cause of hypochromic, microcytic red blood cells.
  • Thalassemia minor, particularly alpha-thalassemia trait, can present with similar laboratory findings, leading to misdiagnosis.

Observation:

  • A young Caucasian female presented with hypochromic, microcytic red cells, initially suspected as IDA.
  • Despite German, French, Dutch, and Scandinavian ancestry, no family history of anemia was reported.
  • DNA analysis confirmed alpha-thalassemia trait with a trans type gene deletion.

Findings:

  • The patient's presentation, including a moderately decreased MCV, slightly elevated red cell count, and absence of hemoglobin H inclusions, is indicative of trans type alpha-thalassemia trait.
  • This contrasts with cis type gene deletion, which carries a higher risk for Hemoglobin H disease in offspring.

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Implications:

  • Accurate diagnosis of alpha-thalassemia trait is essential to avoid unnecessary iron administration and manage inherited hematological disorders.
  • Genetic counseling is recommended for affected individuals, especially regarding reproductive risks.
  • This case broadens the understanding that alpha-thalassemia trait can occur in individuals of Anglo-Saxon and European ancestry.