Alpha Thalassemia

Author: Lillian Mundt, EdD, MLS(ASCP)SH
Reviewers: Joshua J. Cannon, MS, MLS(ASCP)CMSHCM
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Continuing Education Credits

P.A.C.E.® Contact Hours: 1 hour(s)

Florida Board of Clinical Laboratory Science CE Credit Hours

Florida Board of Clinical Laboratory Science CE - General (Hematology): 1 hour(s)

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Objectives

  • Define alpha thalassemia.
  • List the clinical manifestations of the various forms of alpha thalassemia.
  • Discuss laboratory testing and findings for alpha thalassemia.
  • Differentiate among 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.

Course Outline

  • Defining Thalassemia
    • Defining Thalassemia
    • Defining Alpha Thalassemia
    • Alpha Thalassemia States
    • Anemia in Alpha Thalassemia
    • Which of the following mechanisms most commonly causes alpha 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
    • Alpha Thalassemia Genetics and Clinical Conditions Summary
    • Match the alpha thalassemia variants below with their genotypic notation.
  • Clinical Manifestations of Alpha Thalassemia
    • Silent Carrier
    • Alpha Thalassemia Minor
    • Alpha Thalassemia Intermedia
    • Alpha Thalassemia Major
    • 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
      • 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 to the appropriate description.
      • Case Study
        • Case History
          • Case History
        • Complete blood cell count results
          • Complete Blood Count Results
          • A peripheral blood smear from an EDTA-anticoagulated specimen stained with Wright-Giemsa and viewed at 1000× magnification revealed the following results. What red blood cell morphologies are observed on this peripheral blood smear image?
          • A 29-year-old patient of Filipino descent is seen by their physician for fatigue. The patient states that a relative told them that their family has a long history of anemia. The patient presents with sclera icterus, and their spleen is palpable. Routine blood work was initially ordered, and these results were obtained:ParameterResultReference IntervalWBC 6.1 × 103/mcL 4.0–10.5 × 1
        • 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: Medical laboratory scientists, medical laboratory technicians, laboratory supervisors, and laboratory managers. This course is also appropriate for MLS and MLT 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 over 30 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.
The author has no conflict of interest to disclose. 
Reviewer information: Joshua J. Cannon, MS, MLS(ASCP)CMSHCM received his Bachelor of Science and Master of Science in Medical Laboratory Science from Thomas Jefferson University in Philadelphia, PA. He holds Medical Laboratory Scientist and Specialist in Hematology certifications through the ASCP Board of Certification. He was a professor at Thomas Jefferson University for seven years before transitioning into his current role as Education Developer at MediaLab. His areas of expertise and professional passions include clinical hematology and interprofessional education.