Article Text

PDF
Effect of hydroxyurea on the transfusion requirements in patients with severe HbE-β-thalassaemia: a genotypic and phenotypic study
  1. Khushnooma Y Italia1,
  2. Farah F Jijina2,
  3. Rashid Merchant3,
  4. Sangeeta Panjwani3,
  5. Anita H Nadkarni1,
  6. Pratibha M Sawant1,
  7. Sona B Nair1,
  8. Kanjaksha Ghosh1,
  9. Roshan B Colah1
  1. 1National Institute of Immunohaematology, K E M Hospital Campus, Parel, Mumbai, India
  2. 2Hematology Department, K E M Hospital, Parel, Mumbai, India
  3. 3Department of Pediatrics, Nanavati Hospital, Vileparle (W), Mumbai, India
  1. Correspondence to Dr Roshan B Colah, Scientist F, National Institute of Immunohaematology, 13th Floor, N M S Bldg, K E M Hospital Campus, Parel, Mumbai 400 012, India; colahrb{at}gmail.com

Abstract

Background Haemoglobin E (HbE)-β-thalassaemia has a very variable clinical presentation. The management of severe cases that are often transfusion dependent is similar to that of cases of β-thalassaemia major; however, this is often not possible in India because of its high cost and the lack of availability of safe blood at many places. Thus there was a need for a drug such as hydroxyurea, which is known to reduce the transfusion requirements of patients with thalassaemia intermedia. This study was undertaken to evaluate the response of Indian patients with HbE-β-thalassaemia to hydroxyurea.

Materials and methods 11 patients with HbE-β-thalassaemia receiving regular transfusion plus two less frequently transfused patients were selected for hydroxyurea therapy. Clinical and haematological evaluation was performed before and after treatment for 2 years. Molecular studies included β-globin genotype, β-globin gene haplotype, Xmn I polymorphism and α-genotyping.

Results Four clinically severe patients became transfusion independent (responders) after hydroxyurea therapy, four patients showed a reduction in their transfusion requirements (partial responders), and three patients were non-responders. Responders showed a statistically significant increase in Hb, mean corpuscular volume, mean cell Hb, fetal Hb and F cells with a reduction in their transfusion requirements. A reduction in serum ferritin concentration was also seen in responders and non-responders.

Conclusions Genetic markers such as Xmn I polymorphism and α-gene deletions were not always beneficial for the response to hydroxyurea therapy. Thus many more markers and a larger cohort need to be studied to predict the response in these patients.

  • HbE-β-thalassaemia
  • hydroxyurea
  • Xmn I polymorphism
  • α-thalassaemia
  • γ-mRNA expression
  • thalassaemia

Statistics from Altmetric.com

Footnotes

  • Funding Other Funders: Indian Council of Medical Research.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the ethics committee of the National Institute of Immunohaematology.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.