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