Sustained hematologic response to hydroxyurea and erythropoietin in a child with homozygous β°Thalassemia [TVS-II-1-(G→A)]

Hernan Sabio, Eva Hvizdala, Ferdane Kutlar, Abdullah Kutlar

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We describe a patient with homozygous β°thalassemia who experienced a prolonged hématologie response to therapy with Hydroxyurea (HU) and recombinant human erythropoietin (Epo). A term female infant born to non-consanguineous Iranian parents manifested transfusion-dependent anemia in the first year of life. Transfusions were administered at 4 week intervals and at 3-1/2 years of age her Ht was <5%,weight 25%, ferritin-1338. She received Desferrioxamine 1,000 mg by overnight subcutaneous infusion every other day. She had hepatosplenomegaly. The Mb analysis of the patient and her parents showed: Father Mother Patient %Hb A 93.5 93.5 0 %Hb A2 5.1 4.9 1.3 %Hb F 1.4 1.6 98.7 After transfusion therapy was stopped for 10 weeks the Hgb level was 6.6 gm/dl. This value remained unchanged for two additional weeks. After undergoing splenectomy and liver biopsy (iron content: 18,140 mcg/gm dry Wt.), she was started on Epo/HU therapy. Epo was given as 400 u/kg subcutaneously for 3 consecutive days, followed by HU (500 mg) X 2 days. After 3 months of Epo/HU therapy the Hb was maintained above 10 gm/dl and the reticulocyte count between 6%-10%. She has now been treated with Epo/HU for a total of 63 months, and has had no blood transfusions administered during this interval. The Hgb levels have ranged between 9.8-11.0 gm/dl. Her height is now between the 5%-10% for age. Although her weight has doubled, the dose of Epo remains unchanged and is now 223 u/kg. The dose of HU remains at 500 mg (16.3 mg/kg). She has experienced two transient episodes of neutropenia (ANC=960 and 806) which responded rapidly to temporary cessation of HU therapy. The current schedule of therapy is Epo on days 1 and 2 and HU on days 3 and 5. The cycle is repeated weekly. B-globin DNA sequencing of the patient and her parents revealed homozygosity in the patient for the IVS-II-1-(G→A) mutation. This mutation occurs on Mediterranean haplotype III with an Xmnl site in the G gamma promoter which is associated with a higher Hb F response to erythropoeitic stress. The combination of HU and Epo probably acts to further augmenting gamma globin synthesis, thereby reducing the chain imbalance and improving the hematology.

Original languageEnglish (US)
Issue number11 PART II
StatePublished - Dec 1 2000

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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