Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with EPB42-Related Hereditary Spherocytosis

System/ConcernEvaluationComment
Hyperbilirubinemia Serum bilirubin concentration
Anemia
  • Hemoglobin
  • Reticulocyte count
  • Transfusion history
To evaluate disease severity
Iron overload Serum ferritin concentration
Cholelithiasis Abdominal ultrasound exam to assess for cholelithiasisIn those w/signs/symptoms of cholelithiasis or beginning at age 10-12 yrs in those w/significant hemolysis
Splenomegaly Abdominal ultrasound exam to evaluate spleen sizeIf physical exam is not conclusive due to body habitus or if contact sports are contemplated
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of EPB42-HS to facilitate medical & personal decision making

EPB42-HS = EPB42-related hereditary spherocytosis; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: EPB42-Related Hereditary Spherocytosis

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