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Diagnosis of sickle cell disorders

Authors
Elliott P Vichinsky, MD
Donald H Mahoney, Jr, MD
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD

INTRODUCTION

Sickle cell disease (SCD) is an inherited group of disorders characterized by the presence of hemoglobin S (HbS), either from homozygosity for the sickle mutation in the beta globin chain of hemoglobin (HbSS) or from compound heterozygosity of a sickle beta globin mutation with another beta globin mutation (eg, sickle-beta thalassemia). The hallmarks of SCD are vasoocclusive phenomena and hemolytic anemia. Sickle cell trait is a benign carrier condition characterized by heterozygosity for the sickle hemoglobin mutation.

Screening and diagnosis of sickle cell disorders are discussed here.

Discussions of the clinical manifestations and management of sickle cell disorders are presented separately:

(See "Sickle cell trait".)

(See "Overview of variant sickle cell syndromes".)

                    

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Literature review current through: Nov 2016. | This topic last updated: Wed Nov 16 00:00:00 GMT+00:00 2016.
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