Sickle cell disease caused by Hb S/Québec-CHORI: treatment with hydroxyurea and response

Pediatr Blood Cancer. 2007 Aug;49(2):207-10. doi: 10.1002/pbc.21269.

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.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Pain / etiology
  • Acute Disease
  • Anemia, Sickle Cell / complications
  • Anemia, Sickle Cell / drug therapy
  • Anemia, Sickle Cell / genetics*
  • Cholecystectomy
  • Cholecystitis / etiology
  • Cholecystitis / surgery
  • Exchange Transfusion, Whole Blood
  • Female
  • Follow-Up Studies
  • Globins / genetics*
  • Hemoglobin, Sickle / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Hydroxyurea / therapeutic use*
  • Infant, Newborn
  • Pain / etiology
  • Pleural Effusion / etiology
  • Recurrence
  • Respiratory Distress Syndrome / etiology
  • Respiratory Distress Syndrome / therapy
  • Sickle Cell Trait / diagnosis
  • Sickle Cell Trait / genetics

Substances

  • Hemoglobin, Sickle
  • Hemoglobins, Abnormal
  • hemoglobin Quebec-Chori
  • Globins
  • Hydroxyurea