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

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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

Tubman, Venée N
Bennett, Carolyn M
Luo, Hong-yuan
Chui, David Hing-kwei
Heeney, Matthew M

status

published

publication date

August 2007

has subject area

1103 Clinical Sciences (FoR)
1112 Oncology and Carcinogenesis (FoR)
1114 Paediatrics and Reproductive Medicine (FoR)
Abdominal Pain (MeSH)
Acute Disease (MeSH)
Anemia, Sickle Cell (MeSH)
Cholecystectomy (MeSH)
Cholecystitis (MeSH)
Exchange Transfusion, Whole Blood (MeSH)
Female (MeSH)
Follow-Up Studies (MeSH)
Globins (MeSH)
Hemoglobin, Sickle (MeSH)
Hemoglobins, Abnormal (MeSH)
Heterozygote (MeSH)
Humans (MeSH)
Hydroxyurea (MeSH)
Infant, Newborn (MeSH)
Oncology & Carcinogenesis (Science Metrix)
Pain (MeSH)
Pleural Effusion (MeSH)
Recurrence (MeSH)
Respiratory Distress Syndrome (MeSH)
Sickle Cell Trait (MeSH)

published in

Pediatric Blood and Cancer Medical and Pediatric Oncology Journal