Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response

AbstractSickle hemoglobin (Hb S; β Glu6Val) is due to an A>T transversion in codon 6 of the β‐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 β‐globin mutations (e.g., Hb SC, HbSOArab). The authors report a second case of HbS/Québec‐CHORI, a severe compound heterozygous sickling disorder and their experience managing this patient with hydroxyurea. Pediatr Blood Cancer 2007;49:207–210. © 2007 Wiley‐Liss, Inc.

Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response Journal Articles