Alpha Thalassemia

Author: Lillian Mundt, EdD, MLS(ASCP)SH
Reviewers: Catherine Hart, MT(ASCP), Leah Coppolino, MPH, MLS(ASCP)

Continuing Education Credits


  • Define Alpha Thalassemia.
  • List the clinical manifestations of the various forms of Alpha Thalassemia.
  • Compare and contrast laboratory findings for Alpha Thalassemia.
  • Differentiate among the various forms of Alpha Thalassemia.
  • Identify synonyms for the various forms of Alpha Thalassemia.
  • Correlate each type of Alpha Thalassemia with its genetic nomenclature/designation.
  • Explain the molecular basis for the various forms of Alpha Thalassemia (Chromosome associated with Alpha Thalassemia; and the degree of defect for the various forms of Alpha Thalassemia).
  • Interpret routine laboratory results for the case given and arrive at a differential diagnosis.
  • Interpret special hematology tests (Hemoglobin electrophoresis; Special stains).
  • Suggest laboratory tests to confirm this presumptive diagnosis; and suggest explanations for discrepancies among laboratory tests.

Course Outline

  • Defining Thalassemia
      • Defining Thalassemia
      • Defining Alpha Thalassemia
      • Alpha Thalassemia States
      • Anemia in Alpha Thalassemia
      • Which two of the following conditions can lead to thalassemia?
  • Genetics of Alpha Thalassemia
      • Normal Chromosome 16
      • Chromosome 16 Alpha Thalassemia Silent Carrier
      • Chromosome 16 Alpha Thalassemia Minor
      • Alpha Thalassemia Minor - Homozygous
      • Alpha Thalassemia Minor - Heterozygous
      • Chromosome 16 Alpha Thalassemia Intermedia
      • Chromosome 16 Alpha Thalassemia Major
      • Match the alpha thalassemia variants below with their genotypic notation.
  • Clinical Manifestations of Alpha Thalassemia
      • Alpha Thalassemia Major
      • Alpha Thalassemia Intermedia
      • Alpha Thalassemia Minor
      • Silent Carrier
      • Hemoglobin H disease is found in which ethnic group?
  • Laboratory Findings in Alpha Thalassemia
    • Hematology
      • Silent Carrier
      • Alpha Thalassemia Minor
      • Alpha Thalassemia Intermedia
      • Alpha Thalassemia Major
      • Nucleated red blood cells (NRBCs) are most often seen in which variant of alpha thalassemia?
    • Chemistry
      • Serum Iron
      • Serum Bilirubin
      • Lactate Dehydrogenase
      • Serum Haptoglobin
  • Special Procedures
    • Hemoglobin Electrophoresis
      • Hemoglobin Electrophoresis Theory
      • Migration of Hemoglobin in Alkaline Electrophoresis
      • Normal Hemoglobin Electrophoresis
      • Sample Alkaline Hemoglobin Electrophoresis
      • Densitometer Tracings
      • In what order do normal and abnormal hemoglobins migrate in alkaline electrophoresis (from cathode to anode)?
    • Brilliant Cresyl Blue Stain
      • Hemoglobin H bodies
      • Reticulocytes
      • Normal Cells
      • Match the images of these cells stained with the supravital stain, brilliant cresyl blue, with the appropriate description.
  • Case Study
    • Case History
      • Case History
    • Complete blood cell count results
      • Complete Blood Count Results
      • A peripheral blood smear made from an EDTA-anticoagulated blood specimen revealed the following results when stained with Wright-Giemsa stain and view...
      • A 29-year-old female of Philippine descent is seen by her physician for fatigue. The patient states that a relative told her that their family has a l...
    • Serum Chemistry Tests
      • Serum Chemistry Results
    • Hemoglobin Electrophoresis
      • Hemoglobin alkaline electrophoresis on this patient's sample is pictured on the right.Which hemoglobin bands are present?
    • Brilliant Cresyl Blue Stain
      • A brilliant cresyl blue stain was performed on this patient's sample. How should this stain be interpreted?
    • Repeat Hemoglobin Electrophoresis
      • Repeat Hemoglobin Electrophoresis
    • Summary of Case Study
      • Summary
  • Treatment Options for Alpha Thalassemia
      • Treating Alpha Thalassemia
  • References
      • References

Additional Information

Level of instruction: Intermediate
Intended Audience: Clinical laboratory technologists and technicians, and other health care personnel who have an interest in this subject matter. This course is also appropriate for clinical laboratory science students and pathology residents.
Author Information: Lillian Mundt, EdD, MLS(ASCP)SH is currently employed by AMITA Adventist Hinsdale Hospital in the Molecular Pathology Department. She received her Bachelor of Arts degree in Medical Technology from Aurora College, Aurora, Illinois. Her graduate work was completed at Governor's State University, University Park, Illinois, from which she received her Master of Health Science in Allied Health Professions Education; her doctorate in Educational Leadership was earned from the University of Phoenix. Her work experience includes a position as a medical technologist in hematology for 30 plus years at Hinsdale Hospital, Department of Pathology. Lillian also taught at Hinsdale Hospital School of Medical Technology from 1981 until it closed in 1994 and Rosalind Franklin University of Medicine and Science Department of Clinical Laboratory Sciences from 1994 until the program closed in 2009.
Reviewer information: Catherine Hart, MT(ASCP) received her Bachelor of Science degree in Medical Technology at Marquette University. She has been a Medical Technologist at Lake Forest Hospital in Illinois for twenty years and is currently a Senior Technologist, with responsibilities in Blood Bank, Hematology, and the competency and proficiency testing program of the laboratory. Ms. Hart has been the adjunct Blood Bank instructor for the Clinical Laboratory Sciences program at Rosalind Franklin University since 2001 and is the Blood Bank clinical instructor at Lake Forest Hospital. As of May 2007, she joined the RFUMS CLS appointed faculty and is teaching the Hematology and Blood Bank courses.
Reviewer Information: Leah Coppolino, MPH, MLS(ASCP) is a Program Director at MediaLab, Inc. Previously, she was the Director of the Medical Laboratory Science Program at St. Christopher’s Hospital for Children in Philadelphia, Pennsylvania. She holds a Masters in Public Health from Thomas Jefferson University.

Just one user? Visit for individual subscriptions.
This course is part of:
alpha minor  homozygous
alpha minor  heterozygous
alpha major
electrophoresis image. Accessed on 9-27-2012 from:
Alpha chain subunits of the hemoglobin A molecule (red circles)