title: Psychosocial and clinical burden of thalassaemia intermedia and its implications for prenatal diagnosis.
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.
authors.affiliation: Department of Haematology, University College London Medical School.
authors.forename: S
authors.initials: S
authors.lastname: Ratip
authors.forename: D
authors.initials: D
authors.lastname: Skuse
authors.forename: J
authors.initials: J
authors.lastname: Porter
authors.forename: B
authors.initials: B
authors.lastname: Wonke
authors.forename: A
authors.initials: A
authors.lastname: Yardumian
authors.forename: B
authors.initials: B
authors.lastname: Modell
mesh_terms: D000029:Abortion, Legal / Q000523:psychology; D000293:Adolescent; D000328:Adult; D000368:Aged; D001294:Attitude to Health; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010290:Parents / Q000523:psychology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012934:Social Isolation; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000523:psychology*