title: Sickle cell disease caused by Hb S/Québec-CHORI: treatment with hydroxyurea and response.
abstract: Sickle hemoglobin (Hb S;betaGlu 6 Val) is due to an A>T transversion in codon 6 of the beta-globin gene. Other variant hemoglobins mimic Hb A, S, or C on newborn screening and clinical laboratory diagnostic tools, thus making their correct identification potentially difficult. Sickling disorders can result in individuals who are compound heterozygous for beta-globin mutations (e.g., Hb SC, HbSO(Arab)). The authors report a second case of HbS/Québec-CHORI, a severe compound heterozygous sickling disorder and their experience managing this patient with hydroxyurea.
authors.affiliation: Department of Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
authors.forename: Venée N
authors.initials: VN
authors.lastname: Tubman
authors.forename: Carolyn M
authors.initials: CM
authors.lastname: Bennett
authors.forename: Hong-yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Heeney
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000208:Acute Disease; D000755:Anemia, Sickle Cell / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D002763:Cholecystectomy; D002764:Cholecystitis / Q000209:etiology / Q000601:surgery; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D005500:Follow-Up Studies; D005914:Globins / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use*; D007231:Infant, Newborn; D010146:Pain / Q000209:etiology; D010996:Pleural Effusion / Q000209:etiology; D012008:Recurrence; D012128:Respiratory Distress Syndrome / Q000209:etiology / Q000628:therapy; D012805:Sickle Cell Trait / Q000175:diagnosis / Q000235:genetics
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C070823:hemoglobin Quebec-Chori; D005914:Globins; D006918:Hydroxyurea