Sickle Cell Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Sickle Cell Anemia, including details on genetics, causes, symptoms.

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

Tubman VN, Bennett CM, Luo HY, Chui DH, Heeney MM

Department of Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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.

Published 12 June 2007 in Pediatr Blood Cancer, 49(2): 207-10.
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