Algorithm for a genetic test result showing the sickle hemoglobin mutation

Refer to UpToDate for a full list of the clinical manifestations of sickle cell disease, details of preconception testing and counseling, and the evaluation and management of these as well as other variant sickle cell syndromes.

* This information may be available on the same genetic test report or it may require additional testing (further genetic testing or hemoglobin analysis, from which genotype can be inferred).

¶ Potential rare complications in individuals with sickle cell trait include splenic infarction at high altitudes, sudden death related to dehydration, urinary tract and renal disease, complications of traumatic hyphema, venous thromboembolism, and underestimation of the glycosylated hemoglobin (HbA1c).

Δ Clinical severity is variable with these other mutations; greater levels of normal adult hemoglobin (HbA) generally correlate with less severe disease. Acute painful episodes and other vaso-occlusive complications may occur. Median life expectancy in the 7^th decade.

◊ Symptoms include dactylitis and other acute painful episodes, as well as other vaso-occlusive complications (stroke, acute chest syndrome, renal infarction, avascular necrosis of joints, hepatic injury, cardiomyopathy, delayed growth, leg ulcers, retinopathy, and/or priapism). The risk of infections is increased due to functional asplenia. Median life expectancy in the 6^th decade.

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Algorithm for a genetic test result showing the sickle hemoglobin mutation