Psychosocial and clinical burden of thalassaemia intermedia and its implications for prenatal diagnosis. Issue 5 (May 1995)

• Record Type: Journal Article
• Authors: Ratip, S; Skuse, D; Porter, J; Wonke, B; Yardumian, A; Modell, B
• Is Part Of: Archives of disease in childhood. Volume 72:Issue 5(1995)
• Page Start: 408
• Page End: 412
• Publication Date: 1995-05
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.72.5.408
• Languages: English
• ISSNs: 0003-9888

Abstract

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.