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Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response
Author(s) -
Tubman Venée N.,
Bennett Carolyn M.,
Luo Hongyuan,
Chui David H.K.,
Heeney Matthew M.
Publication year - 2007
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21269
Subject(s) - blood cancer , medicine , transversion , disease , hemoglobinopathy , hemoglobin , genetics , anemia , fetal hemoglobin , compound heterozygosity , gene , cancer , pediatrics , mutation , biology , pregnancy , fetus
Sickle 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, 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. Pediatr Blood Cancer 2007;49:207–210. © 2007 Wiley‐Liss, Inc.