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
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
Risk factors
- genetic
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
Investigations to consider
- pulse oximetry
- plain x-rays of long bones
- bacterial cultures
- chest x-ray
Treatment algorithm
vaso-occlusive crisis
acute chest syndrome
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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