Table 1.

Case definitions for SCD and thalassemia

	SCD	Thalassemia
Level 1	• CLIA-certified laboratory result of SCDa reported by a state newborn screening program with confirmatory testing, OR • Clinical diagnosisa by a physician with documented confirmatory CLIA-certified laboratory testing after the newborn period	• CLIA-certified laboratory result of DNA mutation analysis for thalassemiae reported by a state newborn screening program with confirmatory testing OR • Clinical diagnosise by a physician with documented confirmatory CLIA-certified laboratory testing by DNA mutation analysis after the newborn period
Level 2	• CLIA-certified laboratory result of SCDa reported by a state newborn screening program without report of confirmatory testing, OR • SCD ICD code at two or more separate health-care encounters PLUS one or more SCD-associated complication,b treatment,c or procedured	• CLIA-certified laboratory result of thalassemiae reported by a state newborn screening program without DNA mutation analysis OR • Clinical diagnosise by a physician with documented confirmatory CLIA-certified laboratory testing but without DNA mutation analysis after the newborn period OR • Thalassemia ICD code at two or more separate health-care encounters PLUS one or more thalassemia-associated complication,f treatment,g or procedureh
Level 3	• Sickle cell trait ICD code at two or more separate health-care encounters PLUS one or more SCD-associated complication,b treatment,c or procedured OR • SCD ICD code for a single health-care encounter	• CLIA-certified laboratory result of thalassemia reported by results of state newborn screening program without report of confirmatory testing OR • Thalassemia ICD code for a single health-care encounter
ICD-9-CM	• 282.41 Sickle-cell thalassemia without crisis • 282.42 Sickle-cell thalassemia with crisis • 282.6 Sickle-cell disease, unspecified • 282.61 Hemoglobin-SS disease without crisis • 282.62 Hemoglobin-SS disease with crisis • 282.63 Sickle-cell/hemoglobin-C disease without crisis • 282.64 Sickle-cell/hemoglobin-C disease with crisis • 282.68 Other sickle-cell disease without crisis • 282.69 Other sickle-cell disease with crisis • 282.5 Sickle-cell trait	• 282.4 Thalassemias • 282.49 Other thalassemia • 282.7 Other hemoglobinopathies
ICD-10-CM	• D57 Sickle-cell disorders • D57.0 Sickle-cell anemia with crisis • D57.1 Sickle-cell anemia without crisis • D57.2 Double heterozygous sickling disorders (hemoglobin S/C, hemoglobin S/D, hemoglobin S/E, sickle-cell thalassemia) • D57.8 Other sickle-cell disorders • D57.3 Sickle-cell trait	• D56 Thalassemia • D56.0 α-Thalassemia • D56.1 β-Thalassemia • D56.2 Δ-β-Thalassemia • D56.8 Other thalassemias • D56.9 Thalassemia, unspecified

CLIA, Clinical Laboratory Improvement Amendments; ICD-CM, International Classification of Diseases Clinical Modification; SCD, sickle cell disease.

^aIncludes hemoglobin S/S, hemoglobin S/β⁰ thalassemia, hemoglobin S/C, hemoglobin S/β⁺ thalassemia, and other compound heterozygous forms of SCD.

^bChronic renal failure, proteinuria, pneumonia, acute chest syndrome, pulmonary hypertension, stroke (ischemic or hemorrhagic), transient ischemic attack, seizures, intracranial bleeding, priapism, iron overload, gallstones, cholelithiasis, cholecystitis, avascular necrosis, retinal disease, splenomegaly, splenic sequestration, hypersplenism, leg ulcers, dactylitis, and osteomyelitis.

^cHydroxyurea, parenteral analgesics, iron chelators, erythropoietin, and folic acid.

^dRed cell transfusion, red cell exchange, splenectomy, cholecystectomy, and transcranial Doppler.

^eIncludes hemoglobin H disease, hemoglobin H/Constant Spring, α-thalassemia major, β-thalassemia intermedia, β-thalassemia major, hemoglobin E/β⁰ thalassemia.

^fPulmonary hypertension, iron overload, gallstones, cholelithiasis, cholecystitis, splenomegaly, splenic sequestration, or hypersplenism.

^gIron chelators.

^hRed-cell transfusion, splenectomy, cholecystectomy.