Masterclass 9 - Special Paediatric Services in Hospital Authority

The presentation will share to our audiences about the current service model provision of haemophilia children in Hong Kong in the era of establishment of Haematology & Oncology service in Hong Kong Children's Hospital. 
Since 1992, our seniors taking care of children with cancers and complicated haematological disorders from various hospitals collaborated together and formed the Hong Kong Paediatric Haematology & Oncology Study Group. The treatment protocols of childhood cancers and haematological disorders were then unified. With the great support from the Government, Hospital Authority and our pioneers in the paediatric field, the dream of establishment of Hong Kong Children's Hospital came true since December 2018. With all the solid foundation work being done, this generation of paediatricians and paediatric trainees witness an even more unified care model of these complex haematological and oncology conditions. 
For other haematological disorders, namely haemophilia, the approach of share care by hub-and-spoke model with our regional partner paediatric units in Hong Kong is adopted. Patients will receive routine care in the regional partner hospitals with full support from the Hong Kong Children's Hospital. Patients will be reviewed in a multi-disciplinary comprehensive clinic at the Hong Kong Children's Hospital around once to twice a year. This is a win-win situation that patients and families do not need to travel a long way to receive their routine regular care and at the same time, patients and health care provision team in partner units will be also well-supported from the specialists in the field. 
This is a representative model of joint multi-disciplinary contributions and collaborations for our suffered children and families by health care professionals in Hong Kong.

Over the past two decades, there has been remarkable progress in the management of haemophilia. Cloning of the genes encoding factor VIII and factor IX, together with advances in bioengineering have led to novel therapies that offer easier modes of administration, extended half-lives, and improved patient outcomes and quality of life. Managing haemophilia in children requires a multidisplinary approach, to provide comprehensive care and individualized treatment plans to meet the specific needs of the patients and their families.

Newborn screening for Inborn Errors of Metabolism (NBSIEM) began as a pilot program in Oct 2015 and was implemented to all birthing hospitals under the Hospital Authority in stages, with completion in October 2020. From April 2016 till October 2019, the number of conditions increased from 21 to 26. Based on the latest publication (Belaramani et al: Int J Neonatal Screen 2024) from October 2015 till December 2022, 125,688 newborns were screened and the overall recruitment rate was 99.5%. The recall rate was significantly reduced from 0.26% to 0.12% after the introduction of second-tier testing. An inherited metabolic disorder (IMD) was ultimately confirmed in 47 infants implying a prevalence of at least 1 in 2674 in Hong Kong. Around 79% of newborns were asymptomatic at the time of the NBS result. The most common IMD was carnitine uptake defect, followed by citrullinaemia type II. This talk will cover various aspects in the program including true positive, false positive, false negative, out-of-scope cases etc. It will finish with the hope to further expand the program to include other diseases such as lysosomal storage disorders.