Clinical and hematological response to hydroxyurea in a patient with Hb Lepore/beta-thalassemia

Hemoglobin. 1997 May;21(3):219-26. doi: 10.3109/03630269708997382.

Abstract

The possibility of increasing Hb F in vivo using drugs like 5-azacytidine, hydroxyurea, and butyrate has been established. However, in many cases this does not entail an increase in total hemoglobin. We report on a patient with Hb Lepore/beta-thalassemia being treated with hydroxyurea (30 mg/Kg/day) because of the presence of erythroid extramedullary masses with severe neurological abnormalities. During therapy the patient showed a remarkable improvement in neurological signs due to the reduction in extra-medullary masses, a significant increase in both total hemoglobin (from 5.8 to 9.7 g/dl) and Hb F (from 4.9 g/dl to 9.1 g/dl). The marked improvement in hemoglobin level in our patient with Hb Lepore/beta-thalassemia suggests gamma-globin gene activation due to the DNA structure determined by the crossover event.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromatography, High Pressure Liquid
  • Electrophoresis, Polyacrylamide Gel
  • Erythrocyte Volume / drug effects
  • Female
  • Fetal Hemoglobin / biosynthesis
  • Fetal Hemoglobin / chemistry
  • Hemoglobins, Abnormal / chemistry*
  • Hemoglobins, Abnormal / drug effects
  • Hemoglobins, Abnormal / physiology
  • Humans
  • Hydroxyurea / pharmacology*
  • Hydroxyurea / therapeutic use
  • Platelet Count
  • Polymorphism, Genetic
  • Reticulocyte Count
  • beta-Thalassemia / blood*
  • beta-Thalassemia / drug therapy

Substances

  • Hemoglobins, Abnormal
  • Fetal Hemoglobin
  • hemoglobin Lepore
  • Hydroxyurea