PUBLIC PRESENTATIONS

I am the parent of an 11½-year-old daughter with sickle cell disease. I am aware of the need for a comprehensive newborn screening program for sickle cell disease and other hemoglobinopathies. However, all such programs must be instituted with a follow-up component, and parents should be made aware that such screenings are being done. My daughter was born during the summer of 1975 in New York City. New York City began screening for sickle cell and similar hemoglobinopathies in May 1975, but had no comprehensive follow-up program until 1978. My daughter was not screened nor was I aware of the screening program. I learned of my daughter's condition during a routine well-child clinic visit when she was 6 months of age. I am afraid to think of her outcome had I not been taking her for preventive health care, because before the age of 1 year she experienced one of the most life-threatening crises of a child with sickle cell disease—splenic sequestration. I am pleased to announce that in New York City today, parents are notified in a timely manner of their infant's newborn screening results with information regarding follow-up and counseling services. Two of my immediate family members gave birth to infants with sickle cell trait. They were informed of their infants' results within 2 weeks after their babies' births, and were given concrete information and recommendations for follow-up genetic services. I know a comprehensive newborn screening program will prevent mortality in infants found to have sickle cell disease and related hemoglobinopathies.

Download Full-text

Newborn Screening for Sickle Cell Disease

PEDIATRICS ◽

10.1542/peds.83.4.629a ◽

1989 ◽

Vol 83 (4) ◽

pp. 629-630

Author(s):

THOMAS GROSS

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Critical Review ◽

Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

Jornal de Pediatria ◽

10.1016/j.jped.2014.08.006 ◽

2015 ◽

Vol 91 (3) ◽

pp. 242-247 ◽

Cited By ~ 29

Author(s):

Alessandra P. Sabarense ◽

Gabriella O. Lima ◽

Lívia M.L. Silva ◽

Marcos Borato Viana

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Newborn Screening Program ◽

Cell Disease

Download Full-text

Characterization of mortality in children with sickle cell disease diagnosed through the Newborn Screening Program

Jornal de Pediatria (Versão em Português) ◽

10.1016/j.jpedp.2015.03.009 ◽

2015 ◽

Vol 91 (3) ◽

pp. 242-247

Author(s):

Alessandra P. Sabarense ◽

Gabriella O. Lima ◽

Lívia M.L. Silva ◽

Marcos Borato Viana

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Newborn Screening Program ◽

Cell Disease

Download Full-text

Trends in mortality and hospital admissions of sickle cell disease patients before and after the newborn screening program in Maranhão, Brazil

Revista Brasileira de Hematologia e Hemoterapia ◽

10.1016/j.bjhh.2014.11.009 ◽

2015 ◽

Vol 37 (1) ◽

pp. 12-16 ◽

Cited By ~ 9

Author(s):

Ana Ranoy Gomes Lima ◽

Valdinar Sousa Ribeiro ◽

Dario Itapary Nicolau

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Hospital Admissions ◽

Screening Program ◽

Newborn Screening Program ◽

Cell Disease ◽

Before And After

Download Full-text

Newborn Screening for Sickle Cell Disease in St. Vincent and the Grenadines: Results of a Pilot Newborn Screening Program

Global Pediatric Health ◽

10.1177/2333794x17739191 ◽

2017 ◽

Vol 4 ◽

pp. 2333794X1773919 ◽

Cited By ~ 1

Author(s):

Shelly-Ann Williams ◽

Beneka Browne-Ferdinand ◽

Ynolde Smart ◽

Kristen Morella ◽

Susan G. Reed ◽

...

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Newborn Screening Program ◽

Cell Disease

Download Full-text

Newborn Screening for Sickle Cell Disease: Indian Experience

International Journal of Neonatal Screening ◽

10.3390/ijns4040031 ◽

2018 ◽

Vol 4 (4) ◽

pp. 31 ◽

Cited By ~ 1

Author(s):

Roshan Colah ◽

Pallavi Mehta ◽

Malay Mukherjee

Keyword(s):

Sickle Cell Disease ◽

Newborn Screening ◽

Sickle Cell ◽

Screening Program ◽

Clinical Manifestations ◽

Public Health Problem ◽

Major Public Health Problem ◽

Cell Disease ◽

Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

Download Full-text

New York's Experience

PEDIATRICS ◽

10.1542/peds.83.5.872 ◽

1989 ◽

Vol 83 (5) ◽

pp. 872-875 ◽

Cited By ~ 1

Author(s):

Vivien Diaz-Barrios

Keyword(s):

New York ◽

New York City ◽

Sickle Cell ◽

York City ◽

New York State ◽

Cell Disease ◽

York State ◽

York City Department ◽

Department Of Health

In 1964, the New York State Public Health Law, §2500a, set the stage for mandatory newborn screening. By 1978, testing was already under way when the last of the total of eight diseases was added. Screening for homozygous sickle cell disease was included in 1975. Specimens submitted from 1975 to 1984 totaled nearly 2.5 million, and these specimens were sent to four different laboratories in New York state. New York City, with the largest population of newborns, sent the largest proportion of specimens (1.1 million). Although testing was occurring, it was not until 1979 that citywide follow-up was established. Follow-up efforts were coordinated through the New York City Department of Health in cooperation with 52 hospitals. Of these hospitals, 25 received New York state funding for the provision of genetic services, which included testing and counseling for parents of children whose test results were positive for trait or disease. A cooperative effort was set up between the New York City Department of Health and health providers, who agreed to provide follow-up for newborns with all hemoglobinopathies at their respective hospitals. In cases of sickle cell disease, efforts were made to obtain second specimens from affected infants. In cases in which this was difficult, New York City Department of Health aids visited the home and obtained the specimen, counseled the parents, and arranged for further follow-up. Other cooperative efforts occurred when various genetic or sickle cell centers came together and organized committees. Two major committees, the Sickle Cell Advisory Committee, and its executive arm, the Implementation Committee, in which all providers of genetic services throughout the state are represented, met to discuss statewide problems, to identify needs, and to formulate policy.

Download Full-text