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Clinical Manifestations of Sickle Cell Disease Across the Lifespan

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Sickle Cell Disease and Hematopoietic Stem Cell Transplantation

Abstract

Sickle cell disease (SCD) was the first “molecular” disease, but protean clinical manifestations belie simple molecular origins. The abnormal biophysical characteristics of sickle hemoglobin, which polymerizes in red blood cells and causes hemolysis and abnormal cellular interactions, result in a widespread vasculopathy that affects the central nervous system,the heart, lungs, liver, kidney, endocrine, and immune systems, as well as impairing bone and reproductive health. SCD causes lifelong episodes of acute and chronic pain, which are a major source of debility for patients, their families, and their communities. SCD afflicts approximately 100,000 Americans and millions of people worldwide, often in resource-limited settings. As health systems mature in these regions, childhood survival will improve, as it has in high-income countries over the past 40 years. However, absent a cure, the aging SCD population is facing multifaceted effects from acute-on-chronic vascular, inflammatory, and thrombotic injury, and life expectancy for adults with sickle cell anemia remains stubbornly stagnant in the fifth decade of life. Here, we review what is known about the clinical manifestations of SCD in the modern pediatric and enlarging adult populations.

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Abbreviations

ACE:

Angiotensin-converting enzyme

ACS:

Acute chest syndrome

ARB:

Angiotensin receptor blocker

CBC:

Complete blood count

CSSCD:

Cooperative study of sickle cell disease

CXR:

Chest X-ray

DVT:

Deep vein thrombosis

ESRD:

End-stage renal disease

Hb:

Hemoglobin

HbS:

Sickle hemoglobin

HbSβ0 :

Hemoglobin Sβ0 disease

HbSβ+ :

Hemoglobin Sβ+ disease

HbSC:

Hemoglobin SC disease

HbSS:

Hemoglobin SS disease

HU:

Hydroxyurea

MCV:

Mean corpuscular volume

MSOF:

Multisystem organ failure

NHLBI:

National Heart, Lung, and Blood Institute

NSAID:

Nonsteroidal anti-inflammatory

PE:

Pulmonary emboli

SCA:

Sickle cell anemia

SCD:

Sickle cell disease

SCIC:

Sickle cell intrahepatic cholestasis

TCD:

Transcranial Doppler

UK:

United Kingdom

VOC:

Vaso-occlusive crisis

VTE:

Venous thromboembolus

WBC:

White blood count

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Authors and Affiliations

  1. Division of Pediatric Hematology, Johns Hopkins University School of Medicine, 720 Rutland Avenue, 1125 Ross Building, Baltimore, MD, 21205, USA

    Lydia H. Pecker

  2. Hematology and Oncology, Case Western University, Cleveland, OH, USA

    Jane Little

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  1. Lydia H. Pecker
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  2. Jane Little
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Correspondence to Lydia H. Pecker .

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Editors and Affiliations

  1. Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana, USA

    Emily Riehm Meier

  2. Division of Blood and Marrow Transplantation, Children’s National Medical Center, Washington, DC, USA

    Allistair Abraham

  3. Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, Georgia, USA

    Ross M. Fasano

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Pecker, L.H., Little, J. (2018). Clinical Manifestations of Sickle Cell Disease Across the Lifespan. In: Meier, E., Abraham, A., Fasano, R. (eds) Sickle Cell Disease and Hematopoietic Stem Cell Transplantation . Springer, Cham. https://doi.org/10.1007/978-3-319-62328-3_1

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