Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Sickle Cell Disease

Hematology Hematologist consultation
  • CBC & reticulocyte count
  • Measurement of HbF (%)
  • Thalassemia testing: hemoglobin electrophoresis or HPLC & inclusion body prep
  • RBC genotyping so that antigen-matched blood may be given if transfusion is urgently needed
  • Baseline laboratory studies should be done in infants ≥12 mos
  • During childhood HLA typing should be offered to affected person & all full sibs that are unaffected or carry a hemoglobin trait.
  • Serum vitamin D level
  • Renal function tests (BUN, serum creatinine, urinalysis, urine microalbumin)
  • Assessment of iron status (ferritin, TIBC, % saturation)
  • Liver function tests (ALT, direct & indirect bilirubin, LDH)
By genetics professionals 1To inform affected persons & families re nature, MOI, & implications of SCD or other hemoglobinopathy they are at risk for to facilitate medical & personal decision making
Family support
& resources
Assess need for:

ALT = alanine aminotransferase; BUN = blood urea nitrogen; CBC = complete blood count; HbF = fetal hemoglobin; HLA = Human leukocyte antigen; HPLC = high-performance liquid chromatography; LDH = lactate dehydrogenase; MOI = mode of inheritance; RBC = red blood cell; SCD = sickle cell disease; TIBC = total iron-binding capacity


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Sickle Cell Disease

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