Original Publication
Open Access

Sickle Cell Trait and Sickle Cell Disease: A Case Study

Published: September 22, 2009 | 10.15766/mep_2374-8265.7920

Included in this publication:

  • SCD Case.pdf

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Editor's Note: This publication predates our implementation of the Educational Summary Report in 2016 and thus displays a different format than newer publications.


This case presents a classic example of an African American individual who is heterozygous for sickle cell disease and who does not manifest any symptoms until he encounters extreme physical conditions. The case explores the initial presentation of sickle cell symptoms in a heterozygote, the assembly of a pedigree and calculation of genetic risk for transmission of the mutation, and the biochemical and genetic testing options that are available for diagnostic and preconception genetic testing in sickle cell disease. This case also covers the strategies governing newborn screening for hemoglobinopathies and their limitations; the genetic concept of compound heterozygosity as it relates to sickle cell and thalassemia mutations in the globin; and the ethical, legal, and societal ramifications of available types of testing strategies. Student evaluations were collected to examine reactions to the case material. In response to the question “What feature(s) most influenced your level of interest in the sickle cell disease case materials?”, a majority of students selected “Motivation to learn concepts of clinical importance.” General student comments included the following: “The questions posed were complex and this definitely encouraged discussion and debate more so than I have seen in other courses,” “I have a much better understanding of the material after sitting with my group and discussing the issues,” and “I would have liked more discussions as I feel I learn better in this format. I’m not a memorizer, so the more interactive a concept is administered to us, the better it is for me. I personally would rather learn lesser details but learn greater conceptual understanding of the material.”

Educational Objectives

By the end of this case, participants will be able to:

  1. Determine which genetic testing methods are most informative and most efficient in different clinical scenarios.
  2. Compare and contrast the use of molecular genetic and biochemical testing in establishing the diagnosis of sickle cell disease.
  3. Assess the power and limitations of genetic testing as well as the necessity of testing family members’ DNA under certain circumstances.
  4. Discuss the influence of compound heterozygosity on clinical outcome and management decisions.
  5. Describe the social and ethical issues associated with a new diagnosis of sickle cell disease.
  6. Explain issues of carrier testing for hemoglobinopathies as they relate to ethnic minority groups and minors.

Author Information

  • Shoumita Dasgupta, PhD: Boston University School of Medicine

None to report.

None to report. 

Prior Presentations
Acton RD. Using simulation in medical student education: Teaching Medical Students Surgical and Bedside Skills. Invited panel presentation at the Association for Surgical Education / Association for Program Directors in Surgery annual Surgical Education Week; April 28, 2009; Salt Lake City, UT.  

Schmitz CC, Acton RD, Gilkeson J, Groth SS, Reihsen T, Neis KS, Chipman JG.  Synthesis vs. imitation: Evaluating medical student simulation curriculum via objective structured assessment of technical skills. Poster presented at: Annual meeting of the Association of Surgical Education; April 28-30, 2009; Salt Lake City, UT.


Dasgupta S. Sickle cell trait and sickle cell disease: a case study. MedEdPORTAL. 2009;5:7920. https://doi.org/10.15766/mep_2374-8265.7920