Beta Thalassemia

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Author: Lillian A. Mundt, EdD, MLS(ASCP)SH
Reviewer: Catherine Hart, MT(ASCP)

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.

Continuing Education Credits

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 ...
    • 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 M...
      • Case History Summary
  • References
      • References

Additional Information

Level of instruction: Intermediate

Intended Audience: Medical 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.
 
Course Description: This course defines and discusses in depth the disorder, beta thalassemia. Topics include: Clinical manifestations, the genetics of beta thalassemia, and laboratory findings.

This course is part of:
PB bthalassemia