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. 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.

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Selected References

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