1. Treatment with hydroxyurea in a patient compound heterozygote for a high oxygen affinity hemoglobin and β-thalassemia minor
- Author
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Ghislain Cournoyer, Carmen Gagnon, Denis Soulières, Pierre-Olivier Gaudreau, Louise Robin, and Xiaoduan Weng
- Subjects
Hemolytic anemia ,education.field_of_study ,medicine.medical_specialty ,Population ,Hematology ,Biology ,Compound heterozygosity ,medicine.disease ,Hydroxycarbamide ,Hemoglobin A ,Endocrinology ,Hemoglobinopathy ,hemic and lymphatic diseases ,Internal medicine ,Fetal hemoglobin ,Immunology ,medicine ,Hemoglobin ,education ,medicine.drug - Abstract
Compound heterozygotes for β-thalassemia and high oxygen affinity hemoglobin (Hb) have been documented, but experience in the management of such rare cases is minimal. Although hydroxyurea (HU) has never been used in a heterozygote with high oxygen affinity Hb and β-thalassemia, we hypothesized that it would decrease erythrocytosis through a lowered production of abnormal cells and increase of P 50 by induction of fetal hemoglobin (HbF). We present the case of a patient with compound high oxygen affinity Hb mutation with β-thalassemia. PCR analysis revealed combined Hb Regina and IVS1-110 G/A mutations. Treatment with HU caused a decrease in Ht (61.1% to 38.6%) and erythrocyte volume (74.87 mUkg to 40.65 mUkg), as well as an increase in P 50 (6 mmHg to 10 mmHg ) and HbF level (3.6% to 29.8%) at 12-month follow-up. Effects of HU on 2,3 DPG and HbNO levels did not appear to be predictable. Corroboration with other cases is needed to establish solid evidence on the clinical efficacy of HU in this population.
- Published
- 2009
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