Sickle cell anemia

Last reviewed: 24 Aug 2023
Last updated: 17 Jan 2023

Summary

Definition

History and exam

Key diagnostic factors

  • parent(s) diagnosed with sickle cell anemia, other sickle cell disease, or sickle cell trait
  • persistent pain in skeleton, chest, and/or abdomen
  • dactylitis
More key diagnostic factors

Other diagnostic factors

  • high temperature
  • pneumonia-like syndrome
  • bone pain
  • visual floaters
  • tachypnea
  • failure to thrive
  • pallor
  • jaundice
  • tachycardia
  • lethargy
  • protuberant abdomen, often with umbilical hernia
  • cardiac systolic flow murmur
  • maxillary hypertrophy with overbite
  • shock
Other diagnostic factors

Risk factors

  • genetic
More risk factors

Diagnostic investigations

1st investigations to order

  • DNA-based assays
  • hemoglobin isoelectric focusing (Hb IEF)
  • cellulose acetate electrophoresis
  • high-performance liquid chromatography (HPLC) fractionation
  • hemoglobin solubility testing
  • peripheral blood smear
  • CBC and reticulocyte count
  • iron studies
More 1st investigations to order

Investigations to consider

  • pulse oximetry
  • plain x-rays of long bones
  • bacterial cultures
  • chest x-ray
More investigations to consider

Treatment algorithm

ACUTE

vaso-occlusive crisis

acute chest syndrome

ONGOING

chronic disease

Contributors

Authors

Sophie Lanzkron, MD, MHS

Director

Sickle Cell Center for Adults

Associate Professor of Medicine and Oncology

Johns Hopkins Medicine

Baltimore

MD

Disclosures

SL has received funds for consultancy work for Bluebird Bio, Novartis, Novo Nordisk, and Pfizer. SL has stock interest in Pfizer and Teva. SL’s institution has received research funding from Novartis, Imara, Shire, GBT, CSL Behring, University of Pittsburgh, National Heart Lung and Blood Institute, Patient-Centered Outcomes Research Institute, and Health Resources and Services Administration.

Acknowledgements

Dr Sophie Lanzkron would like to gratefully acknowledge Dr Channing Paller, a previous contributor to this topic.

Disclosures

CP declares that she has no competing interests.

Peer reviewers

James Bradner, MD

Instructor in Medicine

Division of Hematologic Neoplasia

Dana-Farber Cancer Institute

Boston

MA

Disclosures

JB declares that he has no competing interests.

Adrian Stephens, MB BS, MD, FRCPath

Consultant Haematologist

University College London Hospitals

London

UK

Disclosures

AS declares that he has no competing interests.

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