Skip to main content
PMC home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1995 May;72(5):408–412. doi: 10.1136/adc.72.5.408

Psychosocial and clinical burden of thalassaemia intermedia and its implications for prenatal diagnosis.

S Ratip 1, D Skuse 1, J Porter 1, B Wonke 1, A Yardumian 1, B Modell 1
PMCID: PMC1511109  PMID: 7618906

Abstract

Twenty eight patients with thalassaemia intermedia and their parents were interviewed using specifically designed questionnaires to evaluate psychosocial burden. Hospital notes were analysed for clinical burden. A wide variation was found for both patients and parents, ranging from virtually unaffected to severely affected. Normal sexual function and setting up a family were mentioned by patients and parents as being particularly important for quality of life. Over half (58%) of the patients had problems with sexual maturation and functioning, and continuous monitoring of all patients with thalassaemia intermedia by a paediatric endocrinologist is therefore strongly indicated. Most parents said, in light of their experiences, that they would opt for prenatal diagnosis and termination of affected pregnancies even if a genotype predicting the mild form of disorder were discovered.

Full text

PDF
409

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Antonarakis S. E., Kang J., Lam V. M., Tam J. W., Li A. M. Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China. Br J Haematol. 1988 Nov;70(3):357–361. doi: 10.1111/j.1365-2141.1988.tb02494.x. [DOI] [PubMed] [Google Scholar]
  2. Cappellini M. D., Fiorelli G., Bernini L. F. Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin. Br J Haematol. 1981 Aug;48(4):561–572. doi: 10.1111/j.1365-2141.1981.tb02753.x. [DOI] [PubMed] [Google Scholar]
  3. Di Marzo R., Dowling C. E., Wong C., Maggio A., Kazazian H. H., Jr The spectrum of beta-thalassaemia mutations in Sicily. Br J Haematol. 1988 Jul;69(3):393–397. doi: 10.1111/j.1365-2141.1988.tb02379.x. [DOI] [PubMed] [Google Scholar]
  4. ERLANDSON M. E., BRILLIANT R., SMITH C. H. COMPARISON OF SIXTY-SIX PATIENTS WITH THALASSEMIA MAJOR AND THIRTEEN PATIENTS WITH THALASSEMIA INTERMEDIA: INCLUDING EVALUATIONS OF GROWTH, DEVELOPMENT, MATURATION AND PROGNOSIS. Ann N Y Acad Sci. 1964 Oct 7;119:727–735. doi: 10.1111/j.1749-6632.1965.tb54074.x. [DOI] [PubMed] [Google Scholar]
  5. Goldberg D. P., Hillier V. F. A scaled version of the General Health Questionnaire. Psychol Med. 1979 Feb;9(1):139–145. doi: 10.1017/s0033291700021644. [DOI] [PubMed] [Google Scholar]
  6. Petrou M., Brugiatelli M., Ward R. H., Modell B. Factors affecting the uptake of prenatal diagnosis for sickle cell disease. J Med Genet. 1992 Nov;29(11):820–823. doi: 10.1136/jmg.29.11.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Rutter M. A children's behaviour questionnaire for completion by teachers: preliminary findings. J Child Psychol Psychiatry. 1967 May;8(1):1–11. doi: 10.1111/j.1469-7610.1967.tb02175.x. [DOI] [PubMed] [Google Scholar]
  8. Thein S. L., Hesketh C., Wallace R. B., Weatherall D. J. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol. 1988 Oct;70(2):225–231. doi: 10.1111/j.1365-2141.1988.tb02468.x. [DOI] [PubMed] [Google Scholar]
  9. Thein S. L., Wainscoat J. S., Sampietro M., Old J. M., Cappellini D., Fiorelli G., Modell B., Weatherall D. J. Association of thalassaemia intermedia with a beta-globin gene haplotype. Br J Haematol. 1987 Mar;65(3):367–373. doi: 10.1111/j.1365-2141.1987.tb06870.x. [DOI] [PubMed] [Google Scholar]
  10. Wainscoat J. S., Kanavakis E., Wood W. G., Letsky E. A., Huehns E. R., Marsh G. W., Higgs D. R., Clegg J. B., Weatherall D. J. Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia. Br J Haematol. 1983 Mar;53(3):411–416. doi: 10.1111/j.1365-2141.1983.tb02041.x. [DOI] [PubMed] [Google Scholar]
  11. Wainscoat J. S., Old J. M., Weatherall D. J., Orkin S. H. The molecular basis for the clinical diversity of beta thalassaemia in Cypriots. Lancet. 1983 Jun 4;1(8336):1235–1237. doi: 10.1016/s0140-6736(83)92694-6. [DOI] [PubMed] [Google Scholar]
  12. Wainscoat J. S., Thein S. L., Weatherall D. J. Thalassaemia intermedia. Blood Rev. 1987 Dec;1(4):273–279. doi: 10.1016/0268-960x(87)90029-4. [DOI] [PubMed] [Google Scholar]
  13. Weatherall D. J., Pressley L., Wood W. G., Higgs D. R., Clegg J. B. Molecular basis for mild forms of homozygous beta-thalassaemia. Lancet. 1981 Mar 7;1(8219):527–529. doi: 10.1016/s0140-6736(81)92864-6. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES