Approach to a positive result from newborn/infant screening for sickle cell disease (SCD)

Newborn screen	FS pattern	FSA pattern	FAS pattern
Implications	Suggests SCD (ie, HbSS or HbS/B⁰ thalassemia)	Suggests a compound SCD state (HbSC or HbS/B⁺ thalassemia)	Suggests sickle cell trait
Action	Refer to an SCD specialist	Refer to an SCD specialist	Reassurance and counseling
Communication of the diagnosis	Inform the family of the diagnosis of a sickle disease	Inform the family of the diagnosis of a sickle disorder	Provide education regarding the inheritance of sickle cell disorders, and reassurance that the infant does not have a chronic blood disorder
Safety measures	Initiate prophylactic penicillin (125 mg orally twice daily) Inform the family that they should seek immediate medical attention if the infant has a fever of 101°F (38.3°C) and inform the treating clinician of the sickle cell disease diagnosis	Follow measures for FS pattern until a definitive diagnosis is established Repeat hemoglobin electrophoresis in three to six months to further characterize the hemoglobinopathy	Explain that under settings of significant hypoxia (eg, high altitude unpressurized aircraft, very strenuous exercise with dehydration), sickling can occur and there is a risk of hematuria, worsening of traumatic hyphema, and a very rare type of renal cancer
Preliminary genetic counseling	Provide information regarding the genetic inheritance of the disorder Offer hemoglobinopathy screening to other family members who may carry a sickle cell mutation and are unaware of their status, and referral for genetic counseling or hematologic consultation if further information is desired	Provide information regarding the genetic inheritance of the disorder Offer hemoglobinopathy screening to other family members who may carry a sickle cell mutation and are unaware of their status, and referral for genetic counseling or hematologic consultation if further information is desired	Counsel patients on the reproductive consequences of sickle cell carrier status (eg, potential for a child with SCD if the other parent is also a carrier) Offer hemoglobinopathy screening to other family members who may carry a sickle cell mutation and are unaware of their status, and referral for genetic counseling or hematologic consultation if further information is desired

The table shows potential results from newborn screening, implications for diagnosis, and immediate management issues. Refer to UpToDate topics on diagnosis and management of sickle cell disorders for further details.

SCD: sickle cell disease; Hb: hemoglobin.

Graphic 96752 Version 1.0

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Approach to a positive result from newborn/infant screening for sickle cell disease (SCD)