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Gene Genius

  • Mark T. Friedman
  • Kamille A. West
  • Peyman Bizargity
  • Kyle Annen
  • Jeffrey S. Jhang
Chapter

Abstract

A 16-year-old African American male with sickle cell anemia is admitted to the hospital with worsening chest pain, shortness of breath, and fever (temperature 39.0 °C). Bilateral lower lobe infiltrates are seen on chest X-ray, and the patient’s oxygen saturation on room air is 88%. The patient’s hemoglobin (Hgb) level is 6.2 g/dL (his baseline Hgb is 7.5 g/dL). The patient has not been seen in your hospital prior to this admission, but the patient does report a history of blood transfusions, including several units of red blood cells (RBCs) transfused 2 months ago for severe pain while traveling abroad. An ethylenediaminetetraacetic acid (EDTA) anticoagulant sample is submitted to the blood bank for type and screen.

Keywords

DNA-based testing Genotyping Massively parallel sequencing Next-generation sequencing Polymerase chain reaction Sickle cell anemia Single nucleotide polymorphisms 

References

  1. 1.
    Schwartz J, Padmanbhan A, Aqui N, Balogun RA, Connelly-Smith L, Delaney M, et al. Guidelines on the use of therapeutic apheresis in clinical practice-Evidence-based approach from the writing committee of the American Society of Apheresis: the seventh special issue. J Clin Apher. 2016;305–6.Google Scholar
  2. 2.
    Brown DJ. A rapid method for harvesting autologous red cells from patients with hemoglobin S disease. Transfusion. 1988;28(1):21–3.CrossRefGoogle Scholar
  3. 3.
    Sapatnekar S. Molecular typing for red blood cell antigens. AACC. 2015. https://www.aacc.org/publications/cln/articles/2015/march/molecular-typing-for-red-blood-cell-antigens Accessed 23 Dec 2017.
  4. 4.
    Paccapelo C, Truglio F, Villa MA, Rivelli N, Marconi M. HEA BeadChip™ technology in immunohematology. Immunohematology. 2015;31(2):81–90.PubMedGoogle Scholar
  5. 5.
    Fichou Y, Mariez M, Le Maréchal C, Feréc C. The experience of extended blood group genotyping by next-generation sequencing (NGS): investigation of patients with sickle-cell disease. Vox Sang. 2016;111(4):418–24.CrossRefGoogle Scholar
  6. 6.
    Schoeman EM, Roulis EV, Liew Y-W, Martin JR, Powley T, Wilson B, et al. Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting. Transfusion. 2018;58(2):284–93.CrossRefGoogle Scholar

Recommended Reading

  1. Casas J, Friedman DF, Jackson T, Vege S, Westhoff CM, Chou ST. Changing practice: red blood cell typing by molecular methods for patients with sickle cell disease. Transfusion. 2015;55(6 Pt 2):1388–93.CrossRefGoogle Scholar
  2. Keller MA. The role of red cell genotyping in transfusion medicine. Immunohematology. 2015;31(2):49–52.PubMedGoogle Scholar
  3. Montemayor-Garcia C, Westhoff CM. The “next-generation” reference laboratory? Transfusion. 2018;58(2):277–9.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Mark T. Friedman
    • 1
  • Kamille A. West
    • 2
  • Peyman Bizargity
    • 3
  • Kyle Annen
    • 4
  • Jeffrey S. Jhang
    • 1
  1. 1.Icahn School of MedicineMount Sinai Health SystemNew YorkUSA
  2. 2.Department of Transfusion MedicineNational Institutes of Health Clinical CenterBethesdaUSA
  3. 3.Department of Molecular & Human GeneticsBaylor College of MedicineHoustonUSA
  4. 4.Department of PathologyChildren’s Hospital ColoradoAuroraUSA

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