Beta Thalassemia

Author: Lillian A. Mundt, EdD, MLS(ASCP)SH
Reviewer: Catherine Hart, MLS(ASCP) and Joshua J. Cannon, MS, MLS(ASCP)CMSHCM
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Continuing Education Credits

P.A.C.E.® Contact Hours: 2 hour(s)

Florida Board of Clinical Laboratory Science CE Credit Hours

Florida Board of Clinical Laboratory Science CE - General (Hematology): 1.5 hour(s)

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Beta Thalassemia is a companion course to Alpha Thalassemia. This course defines and discusses the disorder beta thalassemia and its genetic mutations that not only differentiate it from alpha thalassemia, but dictate the severity of the disease. You will learn which laboratory tests are most useful for diagnosis. An in-depth case study will allow you to pull together all the laboratory and clinical information to arrive at a probable diagnostic conclusion.

Objectives

  • Define beta thalassemia.
  • List the clinical manifestations of the various forms of beta thalassemia.
  • Compare and contrast laboratory findings in cases of beta thalassemia.
  • Differentiate among the various forms of beta thalassemia.
  • Identify synonyms for the various forms of beta thalassemia.
  • Correlate beta thalassemias with their genetic nomenclatures/designations.
  • Explain the molecular basis for the various forms of beta thalassemia.

Course Outline

  • Defining Thalassemia
    • Defining Thalassemias
    • Defining Beta Thalassemia
    • Beta Thalassemia Genetics Overview
    • Anemia in Beta Thalassemia
    • Which chromosome demonstrates a partial or full gene loci deletion in various forms of beta thalassemia?
  • Clinical Manifestations of Beta Thalassemia
    • Beta Thalassemia Major
    • Beta Thalassemia Intermedia
    • Beta Thalassemia Minor
    • Beta Thalassemia Minima
    • Delta-Beta Thalassemia
    • Skeletal deformations are most commonly present in which one of the following beta thalassemia forms?
  • Genetics of Beta Thalassemia
    • Normal Chromosome 11
    • Chromosome 11 Beta Thalassemia Minima (Silent Carrier) Bsc/B
    • Beta Thalassemia Minor
    • Chromosome 11 Beta Thalassemia Minor B+/B
    • Chromosome 11 Beta Thalassemia Minor B0/B
    • Chromosome 11 Delta-Beta Thalassemia Minor
    • Beta Thalassemia Intermedia
    • Chromosome 11 Beta Thalassemia Intermedia B+/B+
    • Chromosome 11 Beta Thalassemia Intermedia B0/B+, B0/B
    • Chromosome 11 Delta-Beta Thalassemia Intermedia
    • Chromosome 11 Beta Thalassemia Major
    • Chromosome 11 Delta-Beta Thalassemia Major
    • The diagram above represents which of the following beta thalassemias?
  • Laboratory Findings in Beta Thalassemia
    • Hematologic Findings For Various Types of Beta Thalassemia
    • Serum Iron
    • Serum Bilirubin
    • Codocytes (target cells) are a typical finding in which of the following types of beta thalassemia?
  • Special Procedures
    • Hemoglobin Electrophoresis
      • Hemoglobin Electrophoresis Theory
      • Migration of Hemoglobin in Alkaline Electrophoresis
      • Normal Hemoglobin Electrophoresis
      • Normal Hemoglobin Electrophoresis Densitometer Tracing
      • Hemoglobin Electrophoresis Patterns in Beta Thalassemia
    • Case Study
      • Case History
        • Case History
      • Laboratory test results
        • Laboratory Test Results
        • The CBC results in this case break the rule of three. What is the rule of three?
        • Why is it important to note that the red cell distribution width (RDW) in this case is normal ?
        • This is a representative field from the patient's peripheral blood smear.What RBC morphology is prominent on this patient's smear?
      • Hemoglobin Electrophoresis
        • Hemoglobin electrophoresis on this patient's sample is pictured above and is labeled "patient 2" in lanes 5 and 6. The densitometer tracing of lane 5 is also pictured.What hemoglobin bands are present?
      • Summary of Case Study
        • What is this patient's most likely diagnosis?Review of results:This patient has an increased RBC count with a decreased Hb and normal Hct. The MCV is microcytic, and the RDW is within normal limits. Many codocytes are present on the peripheral smear. Serum iron is 165 µg/dL (normal = 60 -150 µg/dL), and the TIBC is 230 µg/dL (normal = 250–400 µg/dL). Consider also the fin
        • Case History Summary
      • 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 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 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:
Catherine Hart, MLS(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. She is currently a senior technologist responsible for Blood Bank, Hematology, and the laboratory's competency and proficiency testing program. 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 teaches the Hematology and Blood Bank courses.
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 by Vastian. His areas of expertise and professional passions include clinical hematology and interprofessional education.
Course Description: This course defines and deeply discusses beta thalassemia, a disorder. Topics include clinical manifestations, the genetics of beta thalassemia, and laboratory findings.