Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or double heterozygosity for the sickle gene and another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations.
Suggest update to description in NCIT. Sickle cell diseases include inheritance of the gene for sickle hemoglobin from one parent and one of the following: A gene for sickle hemoglobin from the other parent (Hb SS), A gene for another abnormal hemoglobin from the other parent (Hb SC, HbSD Punjab, HbSO Arab, HbS Leopore, or Hb SE), A gene that limits hemoglobin production from the other parent (sickle beta +/0 thalassemia). In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin.
https://en.wikipedia.org/wiki/Sickle_cell_disease
http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C34383, https://www.ncbi.nlm.nih.gov/pubmed/19902523
Few but definitions not specific enough
SCD, Sickle-Cell Disorder, Sickle Cell Hemoglobinopathy, Drepanocytosis, Sickle Cell Disorder, Sickle Hemoglobinopathy
