Last reviewed: 11 Apr 2021
Last updated: 14 Apr 2021

Summary

Definition

History and exam

Key diagnostic factors

  • parent(s) diagnosed with sickle cell anaemia, other sickle cell disease, or sickle cell trait
  • persistent pain in skeleton, chest, and/or abdomen
  • dactylitis

Other diagnostic factors

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

Diagnostic investigations

1st investigations to order

  • DNA-based assays
  • haemoglobin isoelectric focusing (Hb IEF)
  • cellulose acetate electrophoresis
  • high-performance liquid chromatography (HPLC)
  • haemoglobin solubility testing
  • peripheral blood smear
  • FBC and reticulocyte count
  • iron studies

Investigations to consider

  • pulse oximetry
  • plain x-rays of long bones
  • bacterial cultures
  • chest x-ray

Treatment algorithm

Contributors

Director

Sickle Cell Center for Adults

Associate Professor of Medicine and Oncology

Johns Hopkins Medicine

Baltimore

MD

Disclosures

SL has been the site principal investigator on several industry-funded studies with the following companies: Pfizer, Selexys, AstraZeneca, and Prolong. SL is a site principal investigator for Global Blood Therapeutics, Novartis, Shire, Ironwood, Imara and Bluebird Bio. She is chair of the Adjudication Committee for Novo Nordisk and Bluebird Bio and is a consultant for Pfizer. SL is an author of more than one reference in this topic. SL’s institution has received grants from Pfizer, Ironwood, Global Blood Therapeutics, NIH, PCORI and HRSA for research. She has an interest in a trust holding stocks in Pfizer and Teva.

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 reviewersVIEW ALL

Instructor in Medicine

Division of Hematologic Neoplasia

Dana-Farber Cancer Institute

Boston

MA

Disclosures

JB declares that he has no competing interests.

Consultant Haematologist

University College London Hospitals

London

UK

Disclosures

AS declares that he has no competing interests.

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