Sickle Cell-SS Disease

**Semantic type:** Disease or Syndrome

**Definition:** A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles.

**Synonyms:** - Hb SS - Hemoglobin SS - Hemoglobin SS Disease - Hemoglobin SS Disease - Sickle Cell (SS only)