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Sickle Cell Disease

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Care of Adults with Chronic Childhood Conditions

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Abstract

With advances in medical care, the predicted median survival of individuals with sickle cell disease has increased dramatically over the last several decades. As a result, an increasing number of individuals born with sickle cell disease are surviving well into adulthood, thus making it likely that many primary care providers will see patients with this condition in their adult medical practices. This chapter provides an overview of the common therapeutic interventions employed in the management of sickle cell disease as well as clinical considerations for reproductive health and genetic counseling. The recognition and management of chronic comorbid conditions often seen in adults with sickle cell disease are also discussed. Further, the chapter will highlight strategies in the assessment and management of chronic pain in young adults.

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Author information

Authors and Affiliations

  1. Division of General Internal Medicine, University of Colorado School of Medicine, 12631 E 17th Avenue, Mail Stop B180, 8th Floor, Aurora, CO, 80045, USA

    Linda S. Overholser

  2. Department of Internal Medicine, University of Cincinnati Medical Center, 231 Albert B. Sabin Way, Cincinnati, OH, 45267-0557, USA

    Tiffiny Diers

  3. Division of Internal Medicine/Hematology, University of Colorado School of Medicine, 12700 E. 19th Avenue, Room 9122, RC 2/MS B170, Aurora, CO, 80045, USA

    Kathryn Hassell

Authors
  1. Linda S. Overholser
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  2. Tiffiny Diers
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  3. Kathryn Hassell
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Corresponding author

Correspondence to Linda S. Overholser .

Editor information

Editors and Affiliations

  1. School of Medicine, Hofstra North Shore-LIJ School of Medicine, LAKE SUCCESS, New York, USA

    Mariecel Pilapil

  2. Mount Sinai School of Medicine , NEW YORK, New York, USA

    David E. DeLaet

  3. University of California Los Angeles , SANTA MONICA, California, USA

    Alice A. Kuo

  4. Baylor Clinic , HOUSTON, Texas, USA

    Cynthia Peacock

  5. Brigham and Women's Hospital , BOSTON, Massachusetts, USA

    Niraj Sharma

Appendix

Appendix

Sickle cell disease (SCD) fact sheet

Definition

Healthy newborn infants are born with fetal hemoglobin (HbF), which transitions to normal adult hemoglobin (HbA) within 6 months of life.

Sickle cell disease (SCD) is a group of blood disorders characterized by the presence of hemoglobin S (HbS) instead of normal HbA due to a point mutation in the hemoglobin β(beta)-globin chain gene. Disease classification depends upon the specific combinations of abnormal hemoglobin present:

• The most severe forms of SCD are HbSS (sickle mutation in both β[beta]-globin genes) and HbSβ(beta)0thalassemia (sickle mutation in one gene and absent production of HbA in the other gene)

  • These are also referred to as “sickle cell anemia”

  • Less severe forms of SCD include HbSC (sickle mutation in 1 gene and another mutation causing abnormal hemoglobin in the other gene) and HbSβ(beta)+thalassemia (sickle mutation in 1 gene and underproduction of HbA in the other gene)

Prevalence

SCD disproportionately affects individuals of African or Mediterranean descent, approximately 1 in 2474 live births in US

  • It can be found, however, in Hispanic and Caucasian populations

  • Demographic shifts affect local prevalence

Survival rates into adulthood are increasing

Pathophysiology

Disease manifestations are results of polymerization of abnormal red blood cell (RBC) hemoglobin in low oxygen states

• Leads to deformation (“sickling”) of RBC

  • Can lead to RBC membrane deformation and vascular wall adhesion even when not sickled

  • Leads to fragility and decreased RBC lifespan, chronic hemolytic anemia of varying severity

• Continuous cascade of inflammation, activation of white blood cells, platelets, and endothelial cells through complex biochemical processes affect microvascular blood flow

  • End organ damage results

Symptoms

Individuals are at heightened risk for important chronic conditions as they age, including:

  • Chronic pain syndromes, acute or chronic pain episodes

  • Pulmonary hypertension

  • Chronic renal disease, hypertension, proteinuria

  • Strokes, silent cerebral infarctions affecting brain function

  • Proliferative sickle retinopathy, visual loss

  • Functional asplenia

  • Iron overload in organs if receiving chronic transfusion therapy

Challenges in transition

The transition from pediatric to adult phase of life is known to be associated with increased SCD complications

The use of beneficial therapies to manage SCD complications may also be underutilized in affected adults

Many adult health care providers, especially primary care providers, are unfamiliar with the care of those living with SCD. Stigma and lack of trust are key issues when chronic pain is involved

Helpful resources

• Sickle Cell Disease Association of America (resources for patients and family members, may include local chapters in communities throughout the US): http://www.sicklecelldisease.org

• Sickle Cell Adult Provider Network (resources for health care providers, includes links to connect with SCD experts):

http://www.scapn.net/ohana

• National Heart, Lung and Blood Institute Sickle Cell Disease Guidelines (developed by expert panel): http://www.nhlbi.nih.gov/health-pro/guidelines/sickle-cell-disease-guidelines

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Overholser, L.S., Diers, T., Hassell, K. (2016). Sickle Cell Disease. In: Pilapil, M., DeLaet, D., Kuo, A., Peacock, C., Sharma, N. (eds) Care of Adults with Chronic Childhood Conditions. Springer, Cham. https://doi.org/10.1007/978-3-319-43827-6_16

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