It has been 10 years since the start of universal screening for hemoglobinopathies and thalassemias in the Philippines. Since then, hemoglobinopathies and thalassemias collectively have become the third most common disorders out of the over 29 disorders in the Expanded Newborn Screening (ENBS) panel. Patients with these disorders require long-term care and management. Recognizing this, and with patients transitioning from pediatric to adult care, a gathering of clinicians involved in their care becomes even more vital.
On 6 April 2024, the Newborn Screening Reference Center (NSRC), in collaboration with the Philippine Society of Pediatric Hematology (PSPH), hosted the event entitled “Hematologists as Partners in the Implementation of Newborn Screening (NBS) in the Philippines” at the Bayview Park Hotel Manila and virtually via Zoom. The event brought together pediatric hematologists, internist-hematologists, clinical geneticists, and genetics and pediatric hematology fellows-in-training, all committed to advancing patient care.
Clinical geneticist and NSRC Director Dr. Michelle E. Abadingo and National Scientist Dr. Carmencita Padilla, one of the proponents of the NBS program in the Philippines, provided updates on ENBS and implementation of the NBS for hemoglobinopathies and thalassemias in the Philippines. They highlighted the milestones and challenges of the program.
Margarita Aziza Canlas, NSRC medical technologist IV, discussed the algorithms and protocols from screening to confirmatory and endorsement of patients to the Newborn Screening Continuity Clinics (NBSCCs). She underscored that the protocols of the program have been dynamic, adapting to international standards and latest machines and technologies. Charity Jomento, former NSRC quality assurance officer, discussed the basic principles of the High Performance Liquid Chromatography (HPLC), the primary method used for NBS hemoglobinopathies and thalassemias.
Dr. Reynaldo De Castro, Jr., pediatric hematologist and PSPH president, explained the mechanism of Capillary Electrophoresis (CE), a confirmatory method for some hemoglobinopathies and thalassemias. Dr. Ebner Bon Maceda, a clinical geneticist and head of the Center for Human Genetics Services, discussed the interpretation of genetic testing results while Dr. Joliza Cañeba shared the follow-up care guidelines for Transfusion Dependent and Non Transfusion Dependent Thalassemia.
Dr. Ma. Jasmin Gonzales-Ruiz, pediatric hematologist and lead of the Experts’ Committee on G6PD deficiency (G6PDd), presented the accomplishments and challenges of G6PDd screening in the Philippines. Dr. Ma-Am Joy Tumulak, research assistant professor of the Institute of Human Genetics provided the basics of genetic counselling for hemoglobinopathies and thalassemias.
Capping off the lectures, Dr. Jesus Alvarez-Relos, internist- hematologist, shared his experiences in managing older patients with disorders. After the lectures and discussions, participants were challenged to interpret sample results and determine the appropriate next steps, ensuring a thorough grasp of the discussions.
The event provided a unique opportunity for the participants to gain insights from National Scientist Dr. Padilla, who shared her experiences in championing the NBS program. Dr. Padilla enjoined professional hematology societies to advocate for their own causes and to remain partners of the NBS program.
Espiritu, LS
