title: Australian Paediatric Surveillance Unit study of haemoglobinopathies in Australian children.
abstract: OBJECTIVE
  The aims of this study were to determine the incidence and types of haemoglobinopathies in Australian children and their distribution among ethnic groups, and to collect information on timing of diagnosis of haemoglobinopathies in Australia.
  
  
  METHODS
  Between January 2004 and March 2006, the Australian Paediatric Surveillance Unit asked paediatricians to report all children under 15 years of age with a newly diagnosed haemoglobinopathy. A questionnaire requesting further information was forwarded to those clinicians. Carrier states such as thalassaemia minor were excluded.
  
  
  RESULTS
  Eighty-four notifications of haemoglobinopathy were received by the Australian Paediatric Surveillance Unit, with 59 confirmed cases giving a national incidence of 0.74 per 100,000 children < 15 years of age per annum. Of 59 cases, 42 (71%) were Australian born. Twenty-nine (35.6%) children had sickle cell disease, 17 (28.8%) had Hb H disease, six (10.2%) had beta-thalassaemia major and 15 (25.4%) had compound heterozygous conditions. One child died from sickle cell disease. Of Australian born children, at least 10 mothers (23.8%) and 11 fathers (26.2%) were unaware of their carrier status pre-partum (information unavailable for 13 mothers and 17 fathers). Only 11 parents (18.6%) had risks of haemoglobinopathy discussed with them antenatally and only three cases (5.1%) were diagnosed antenatally.
  
  
  CONCLUSIONS
  We found that a small but significant number of children with haemoglobinopathies are being born in Australia despite existing programmes of testing at-risk groups and neonatal screening. Haemoglobinopathies were also diagnosed in recent immigrants. Greater awareness of these conditions and enhancements of screening and detection programmes may be needed as the genetic diversity of the Australian population continues to develop.
authors.affiliation: Sydney Children's Hospital, Randwick, Australia. elizabeth.argent@sesiahs.health.nsw.gov.au
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Argent
authors.forename: Phillip
authors.initials: P
authors.lastname: Emder
authors.forename: Paul
authors.initials: P
authors.lastname: Monagle
authors.forename: David
authors.initials: D
authors.lastname: Mowat
authors.forename: Toni
authors.initials: T
authors.lastname: Petterson
authors.forename: Susan
authors.initials: S
authors.lastname: Russell
authors.forename: Rani
authors.initials: R
authors.lastname: Sachdev
authors.forename: Christine
authors.initials: C
authors.lastname: Stone
authors.forename: David S
authors.initials: DS
authors.lastname: Ziegler
mesh_terms: D000293:Adolescent; D001210:Asia, Southeastern / Q000208:ethnology; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology; D006801:Humans; D015994:Incidence; D007223:Infant; D008403:Mass Screening; D008877:Middle East / Q000208:ethnology; D011159:Population Surveillance; D011795:Surveys and Questionnaires