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Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies

National Institutes of Health
Consensus Development Conference Statement
April 6-8, 1987

Confernce artwork depicting an African-American infant lying underneath a crib mobile with normal and sickled blood cells dangling.

This statement is more than five years old and is provided solely for historical purposes. Due to the cumulative nature of medical research, new knowledge has inevitably accumulated in this subject area in the time since the statement was initially prepared. Thus some of the material is likely to be out of date, and at worst simply wrong. For reliable, current information on this and other health topics, we recommend consulting the National Institutes of Health's MedlinePlus http://www.nlm.nih.gov/medlineplus/.

This statement was originally published as: Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies. NIH Consens Statement 1987 Apr 6-8;6(9):1-22.

For making bibliographic reference to the statement in the electronic form displayed here, it is recommended that the following format be used: Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies. NIH Consens Statement Online 1987 Apr 6-8 [cited year month day];6(9):1-22.

Introduction

Hemoglobinopathies represent one of the major health problems in the United States and constitute the most common genetic disorders in some populations. Sickle cell diseases (SS, SC, S-beta thalassemia) alone affect about 1/400 American black newborns. These and other hemoglobinopathies are common in persons of African, Mediterranean, Asian, Caribbean, and South and Central American origins as well. Although the technology to screen infants for hemoglobinopathies in the newborn period has been available for many years, widespread adoption of screening has not occurred. Reasons have included lack of a demonstrated improvement in outcome with early diagnosis, uncertainty about whom to test, technical difficulties caused by the high level of fetal hemoglobin in the neonate, and questions about obligations to those identified as carriers.

For at least 20 years, it has been known that children with sickle cell anemia have an increased susceptibility to severe bacterial infection, particularly due to Streptococcus pneumoniae. The risk of major infection with this organism is greatest in the first 3 years of life and can occur as early as 4 months of age. This infection may be the first clinical manifestation of disease and carries a case fatality rate as high as 30 percent. Acute splenic sequestration crisis, another catastrophic event, also contributes to mortality in infancy. Data are now available documenting a reduction of morbidity and mortality through early diagnosis and immediate entry into programs of comprehensive care, including penicillin prophylaxis. Early diagnosis of hemoglobinopathies is facilitated by newborn screening. Screening has the capability of reaching infants who might otherwise be lost to the health care system or delayed in their entry into it. Neonatal testing to identify infants with major sickling diseases allows prompt institution of ongoing care, including the provision of effective prophylaxis. It is unclear whether presymptomatic interventions offer significant advantage to infants with other hemoglobinopathies (e.g., Hb E-beta thalassemia and homozygous beta and alpha thalassemias). Identification by newborn screening may, however, provide natural history data and/or allow testing of potential interventions.

To examine questions surrounding the issue of neonatal screening and to enhance understanding among scientists, health care providers, and the public at large, the National Heart, Lung, and Blood Institute and the National Institute of Child Health and Human Development of the National Institutes of Health (NIH), the Genetic Disease Services Branch, the Division of Maternal and Child Health, the Bureau of Health Care Delivery and Assistance of the Health Resources and Services Administration, and the NIH Office of Medical Applications of Research convened an NIH Consensus Development Conference on Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies on April 6-8, 1987. For 1 1/2 days, experts in the field presented their findings, and an audience that included health professionals, parents, patients, and other interested persons discussed the issues. A consensus panel representing the fields of biochemistry, genetics, pediatrics, obstetrics, hematology, public health, nursing, law, epidemiology, and counseling considered the scientific evidence and developed answers to the following questions:

  1. Are programs for screening the newborn for sickle cell disease effective in decreasing morbidity and mortality?
  2. What are the techniques of screening, and what is their efficacy?
  3. What are the major factors to be considered, including benefits and risks, in conducting newborn screening programs?
  4. What are the optimal followup and management of infants identified with hemoglobinopathies (disease and carriers)?
  5. What future research directions are indicated?

Are Programs for Screening the Newborn for Sickle Cell Disease Effective in Decreasing Morbidity and Mortality?

Although the technology to screen infants in the newborn period has been available for the past 15 to 20 years, screening has not received widespread acceptance largely because of the perception that, without effective treatment, early diagnosis would not decrease morbidity and mortality.

There is now indisputable evidence that rates of morbidity and mortality can be significantly reduced by programs that screen newborns for sickle cell disease, if they are linked to comprehensive clinical management systems that include parental education. A recent multicenter randomized trial of oral penicillin prophylaxis in children with sickle cell disease showed an impressive 85 percent reduction in the incidence of infection in the group treated with oral penicillin as compared with the group given placebo. The 13 septic episodes among the 110 patients in the placebo group resulted in 3 deaths compared with no deaths and only 2 septic episodes among the 105 patients treated with prophylactic penicillin. These significant differences between the placebo and penicillin groups were compelling reasons to terminate the study 8 months early, after an average followup of 15 months.

Over the past 20 years, a case fatality rate of 30 percent has been commonly observed among children with sickle cell anemia who develop sepsis. Because babies with sickle cell disease may develop sepsis as young as 4 months of age, early provision of comprehensive care coupled with prophylactic penicillin beginning prior to age 4 months is now recommended. An additional factor possibly contributing to improved survival is the widespread availability of pneumococcal vaccine. These effective interventions fully justify the establishment of newborn screening programs to assure early access to care.
 

What Are the Techniques of Screening, and What is Their Efficacy?

The panel recommends centralized laboratories for mass screening programs and for confirmation of diagnosis of sickle cell disease states because of the expertise available and the experience gained from analysis of large numbers of samples.

Effective laboratory procedures exist that are currently being applied in statewide programs for newborn screening for sickle cell disease. The technology for mass screening for hemoglobinopathies is still evolving, especially for the detection of thalassemia states. Electrophoresis at alkaline pH on cellulose acetate followed by further examination of abnormal samples by acid electrophoresis on citrate agar is presently the most popular procedure used for mass screening. Advantages include simplicity, low cost, and standardization. These techniques provide reliable detection of hemoglobins (Hb) S, C, and A even in the presence of large amounts of Hb F. Disadvantages include the need for two different electrophoretic procedures to ensure accurate results and limited resolution of other abnormal hemoglobins. Several large pilot studies have demonstrated low error rates. However, more data are needed to assess the technical adequacy of each screening procedure with regard to its reproducibility, sensitivity, specificity, and error rates.

Thin layer isoelectric focusing is also currently being employed in many newborn screening programs. This methodology provides better resolution of Hbs A, S, and C from Hb F and detection of many other abnormal hemoglobins by a single procedure. It is, however, more costly, and there has been less experience in its use. High pressure liquid chromatography (HPLC) is a highly sensitive, rapid, and reproducible technique capable of differentiating among many abnormal hemoglobins. This method is currently being evaluated in a few newborn screening programs. Solubility testing procedures are not satisfactory for screening purposes.

The panel concludes that at the present time, cellulose acetate followed by citrate agar electrophoresis is the method of choice for large-scale centralized mass screening. However, isoelectric focusing is a satisfactory alternative and may be the method of choice for some screening programs.

Blood collected from heel puncture and dried on filter paper has been the most common method of sample collection for newborn screening programs for inborn errors of metabolism (phenylketonuria, etc.). The use of these same blood samples in neonatal testing for sickle cell disease is advantageous because the system for collection already exists; no duplicate blood sampling is required; and transmittal to centralized laboratories is in place. Disadvantages include susceptibility to sample deterioration and the possibility of contamination by neonatal blood transfusion. Missed sampling is a problem when infants are in special care units or are discharged early.

Alternatively, cord blood samples can be used for neonatal screening. The hemoglobin components within these samples (especially Hb Barts) are more stable, and the problem of contamination by transfusion is avoided. However, cord blood can be contaminated with maternal blood. It is not easily transported and may not be collected during unattended deliveries.

Techniques recommended for newborn screening also can be used for the testing of individuals of any age. Whatever screening method is used, confirmation of abnormal results by analysis of followup blood samples is imperative. Every screening laboratory must participate in a quality-control program that includes proficiency testing. Establishment of a national proficiency testing program should be a high priority, and it should yield predictive values of all test results.
 

What Are the Major Factors To Be Considered, Including Benefits and Risks, in Conducting Newborn Screening Programs?

In conducting an adequate newborn screening program, the following factors should be considered.

Population To Be Screened

The panel recommends universal screening of all newborns for hemoglobinopathies. Programs that screen only specific high-risk segments of a population tend to miss individuals who are inaccurately registered and to encourage nonscreening because of provider complacency. This panel believes that the health risks to children with sickle cell diseases are so great that major efforts should be made to identify every affected child. Therefore, the panel recommends that most states adopt a policy of screening all newborns. For those states with very few at-risk members, targeted screening might be considered. State genetic planning committees and sickle cell advisory committees should provide an appropriate forum for considering the advisability of adopting this exception to the recommended norm.

The Role of Prenatal Screening

The screening for hemoglobinopathies should include both prenatal maternal and neonatal screening as a continuum of health care. Prenatal maternal hemoglobin screening will help to determine maternal obstetrical and neonatal risk and will provide genetic information for the parents, as well as make prenatal diagnosis possible.

Mandating the Provision of Screening

Good medical practice dictates that screening be provided for all neonates as a part of ordinary health care. The benefits of screening are so compelling that its provision should not be left to the discretion of individual physicians or health care facilities. State law should require the provision of such services.

Providers should inform pregnant women about the availability and purpose of antenatal and neonatal hemoglobin screening as early as possible in pregnancy. Screening should be presented to the parent as a part of the usual panel of neonatal tests. The parent may refuse any of these tests. If the parent does so, the provider should document this fact.

Implications of the Heterozygous State

A specific protocol portrait followup should be developed by each screening program. When a neonate with trait is identified, a health care provider must contact the family with the results of the screening and offer family testing and counseling or referral for these services. The health care provider must, however, understand that this information could be disruptive to family well-being because it may raise fears of chronic illness, exposure of nonpaternity, and concern about sickle cell disease in future pregnancies. Therefore, the provider must approach and counsel first and foremost the mother, as the pivotal caretaker. Subsequent decisions regarding testing and counseling of other family members should be done with guidance from the mother, and always with sensitivity and discretion.

Education of Professionals and the Public

The training and continuing education of professional providers of care is of paramount importance and must be regularly included within the curricula of schools of medicine, nursing, social work, and other appropriate professions as well as in continuing postgraduate courses. Such education should provide the student and professional with knowledge of the etiology, pathophysiology, medical management, and psychosocial issues of relevance in assuring the comprehensive care of patients with hemoglobinopathies.

Public education is also critical to an effective neonatal screening program. Focal points should include schools, day care providers, mass media, and appropriate literature. Such education ought to include a clear understanding of the purpose of screening and the nature of sickle cell disease and sickle cell trait.

Risks of Screening

The benefits of sickle cell screening in terms of reduced morbidity and mortality of children with sickle hemoglobinopathies clearly outweigh the risks of screening. Risks include misdiagnosis, stigmatization, diminished self-esteem, and potential discrimination. These risks, however, can be minimized by careful programmatic design and monitoring.

One risk of screening is the anxiety to the family from the discovery of homozygous sickle states. Although this risk is unavoidable, the family can be helped to deal with the problem through sympathetic and sensitive support and careful education regarding appropriate care. Anxiety can also result from the discovery that a child has a heterozygous state. Counselors should emphasize that the condition will have little clinical impact on the child. If retesting of a child to confirm an uncertain test result is required, the retesting should also be handled with sensitivity to parental and child concerns. In all these matters, direct patient contact by providers in an organized program is preferred over indirect methods such as mailed information.

Legal safeguards against discrimination in employment opportunities and insurance eligibility are also necessary, in view of the historical abuses of sickle cell screening. Considerable care should be taken to ensure confidentiality of screening results and to maintain the privacy of the family.
 

What Are the Optimal Followup and Management of Infants Identified With Hemoglobinopathies (Disease and Carriers)?

Comprehensive specialized care should be the right of every child who is affected by a clinically significant hemoglobinopathy. Economic, social, cultural, or geographic concerns should not limit access to this care but should be taken into account when structuring a followup program. Local factors will dictate how such continuous, consistent, and comprehensive care is best provided. Sickle cell centers with staff and support services to care for the physical and psychosocial needs of sickle cell patients and their families provide a model for comprehensive care. This model, however, may be unattainable in many areas. A multidisciplinary approach and 24-hour availability of care must be a part of all systems. Primary care physicians should educate themselves about sickle cell diseases and about the availability of consultation and support services in their local area. In rural areas, health departments should designate health professionals who can assist in resource identification and network linkage. Consideration should be given to satellite clinics from tertiary centers that use local health care services. All components of the care system must be present in any followup program even though these components may be delivered by a single individual.

Whether the care of a child with sickle cell disease is obtained through a single provider, in a health maintenance organization, by a comprehensive sickle cell clinic, or a hematology clinic, the care must either be a component of a sickle cell network or have ties to such a network. Such followup capabilities should be in place before a screening program is instituted.

Sickle Cell Diseases

In the first few months of the child's life, the screening program should assist the family to identify an appropriate health care provider and to become established with the network before the onset of symptoms.

Components of the ideal network should include the sickle cell experts, genetic counselors, social services, interpreters, and knowledgeable subspecialists such as neurologists, orthopedists, ophthalmologists, and others. The value of local and national sickle cell organizations in providing supportive counseling, peer groups, tutoring, intracommunity referrals, and advocacy cannot be overemphasized. These organizations should be involved in all phases of planning for the institution of neonatal screening for sickle cell disease.

The continuity provider must be prepared to:

  1. Perform appropriate tests on the patient or the family to make the definitive diagnosis of the type of sickle cell disease.
  2. Start penicillin prophylaxis prior to age 4 months and make every effort to assure compliance.
  3. Institute routine immunization as well as Haemophilus influenzae B vaccine at 18 months and 2 years and Streptococcus pneumoniae vaccine at 2 years.
  4. Monitor growth and development.
  5. Advise optimal nutrition and dietary supplements as needed.
  6. Perform periodic physical examinations and whatever laboratory and radiographic tests are indicated.
  7. Educate and counsel parents on early identification of symptoms of impending serious complications (e.g., fever, lethargy, pallor, enlarging abdomen).
  8. Provide genetic counseling to family.
  9. Advise on health care management.
  10. Identify peers and peer groups that the patient might relate to in the immediate health provider system or through the sickle cell network.
  11. Provide access to blood banking expertise.
  12. Provide access to knowledgeable emergency and inpatient pediatric services, preferably in a tertiary care center.
  13. Provide supportive counseling to the parents and other family members or make referral to mental health services.

 

Key professionals include pediatricians, nurses, genetic counselors, social workers, nutritionists, and child developmentalists. If these disciplines are not available as separate individuals, their function can be subsumed by the provider or his or her designee.

Other Hemoglobinopathies

Patients with hemoglobinopathies of questionable or minimal significance (e.g., CC, EE) can be followed in a sickle cell setting at the option of the patient or the provider. Patients with beta thalassemia other than S-beta thalassemia are best followed in thalassemia programs because of their need for intensive, long-term transfusion protocols.

The presence of alpha thalassemia in newborns is indicated by elevated levels of Hb Barts. Alpha thalassemia genes in black patients are generally of no clinical significance. Patients with Hb H disease require care by a hematologist. Asian patients with alpha thalassemia trait need counseling for the potential reproductive risk of Hb H disease or hydrops fetalis.

Carrier Identification

Followup of the child identified as heterozygous for a hemoglobinopathy requires no specialized medical care. However, there are several social and genetic counseling implications that should be recognized when designing a program for notification. To maintain confidentiality, results should be released only to the parents, the hospital, and the patient's physician. Information provided should explain that the carrier state is not a disease, that there may be implications for other family members, and that depending on results of family studies, future children may be at risk for a clinically significant hemoglobinopathy. A referral source for family testing and counseling should be clearly identified and obtainable through the network.
 

What Future Research Directions Are Indicated?

Improved screening techniques for sickle cell disease and other hemoglobinopathies would be highly desirable. Research in several new methodologies presently under development, including high pressure liquid chromatography, immunologic techniques using monoclonal antibodies, and DNA analysis from whole blood samples, should be encouraged. This latter technique could result in the definition of the alpha and beta genotype of the patient and completely circumvent the problem of high levels of fetal hemoglobin at birth. Automated processing of neonatal blood samples and computer-generated reporting of screening results should also be explored for future diagnostic screening techniques. Each technique should be assessed for its technical adequacy with regard to reproducibility, sensitivity, specificity, and predictive values of screening tests for sickle cell diseases and other hemoglobinopathies.

Further analysis of the optimal components of networks of care for the newborn with sickle cell anemia is desirable. Standardization and evaluation of protocols used in these programs should be encouraged. The impact of the screening, followup, and treatment on the physical, social, cognitive, and emotional development of the child should be studied. The effect of neonatal diagnosis and counseling for sickle cell anemia on individual family members should also be assessed.

Further studies on the optimal management of the known potentially fatal complications of sickle cell anemia are required. First, a better definition of the dose, route of administration, type, and duration of penicillin therapy for prophylaxis of pneumococcal sepsis is necessary. In addition, the role of pneumococcal vaccine in sickle cell patients over age 2 should be assessed. Development of a pneumococcal vaccine effective at an earlier age should be encouraged. The mechanisms of susceptibility to infection in sickle cell patients should be investigated. More research is needed to determine the child at risk for splenic sequestration crises. Studies of the potential effect of neonatal diagnosis on management of other hemoglobinopathies (including hemoglobin E-beta thalassemia and homozygous alpha and beta thalassemia) are required. These studies will necessitate the development of new and more effective methods for the diagnosis of alpha and beta thalassemia in the newborn than are currently available.

The impact of neonatal diagnosis on the reproductive choices in families at risk for all hemoglobinopathies should be evaluated.

Optimal methods for educating individuals and families at risk for sickle cell diseases and other hemoglobinopathies should be studied. The studies should include an analysis of the relevant aspects of these conditions, neonatal screening, and issues related to the process or counseling and followup. Research projects should evaluate the best method of educating and counseling both the families of trait newborns proximal to the birth of the child and the child itself, in the long run.
 

Conclusions

 

  1. Effective intervention in children with sickle cell disease provides a major impetus for neonatal screening. Prophylactic penicillin therapy provided in a setting of comprehensive care has been found to significantly reduce the morbidity and mortality of patients with pneumococcal sepsis.
  2. Reliable, simple, and cost-effective techniques for mass screening of neonates are available and have demonstrated validity.
  3. The benefits of screening are so compelling that universal screening should be provided. State law should mandate the availability of these services while permitting parental refusal.
  4. Centralization of laboratory services improves efficiency and decreases the probability of error.
  5. To be effective, neonatal screening must be part of a comprehensive program for the care of sickle cell patients and their families. These services must include a network of providers who ensure optimal medical care, psychosocial support, and genetic counseling. Such followup capabilities should be in place before screening is instituted.
  6. Further research should focus on the following: improving and evaluating the technology for screening; defining the impact of screening on the physical, social, cognitive, and emotional development on the child and on family members; assessing other methods of management of infection; and providing optimal education of individuals and families at risk.

In summary, the panel concludes that every child should be screened for hemoglobinopathies to prevent the potentially fatal complications of sickle cell disease during infancy.
 

Consensus Development Panel

Doris L. Wethers, M.D.
Conference and Panel Chairperson
Director
Comprehensive Sickle Cell Center
St. Luke's-Roosevelt Hospital Center
Associate Professor of Clinical Pediatrics
Columbia University College of Physicians and Surgeons
New York, New York
Robert L. Baehner, M.D.
Chairman
Department of Pediatrics
University of Southern California
School of Medicine
Physician-in-Chief
Department of Pediatrics
Children's Hospital of Los Angeles
Los Angeles, California
Arthur Bank, M.D.
Professor of Medicine and Genetics and Development
Columbia University College of Physicians and Surgeons
New York, New York
Robert A. Burt, J.D.
Southmayd Professor of Law
Yale University
New Haven, Connecticut
Solan Chao, M.D.
Physician-in-Charge
Obstetrics Division
North Shore University Hospital
Manhasset, New York
Mary Lou de Leon Siantz, Ph.D., R.N.
Assistant Professor
Graduate Program of Psychiatric and Mental Health Nursing
Director
Child and Adolescent Program
Indiana University-Purdue University at Indianapolis School of Nursing
Indianapolis, Indiana
Sara Reed DePersio, M.D., M.P.H.
Chief
Maternal and Child Health Medical Services
Oklahoma State Department of Health
President
National Association for Maternal and Child Health and Crippled Children's Program
Oklahoma City, Oklahoma
Frederick C. Green, M.D.
Emeritus Professor
Child Health and Development
George Washington University School of Medicine
Washington, D.C.
Ola M. Huntley, Ed.D.
Family Counselor, Los Angeles Schools
Board of Directors
Sickle Cell Self-Help Group
Inglewood, California
Richard T. Jones, M.D., Ph.D.
Professor and Chairman
Department of Biochemistry
Oregon Health Sciences University
School of Medicine
Portland, Oregon
John Kattwinkel, M.D.
Professor of Pediatrics
Director of Newborn Services
Department of Pediatrics
University of Virginia School of Medicine
Charlottesville, Virginia
Andrew Z. Keller, D.M.D., M.P.H., F.A.C.E.
Senior Epidemiologist
Andrew Z. Keller and Associates
Washington, D.C.
Claire O. Leonard, M.D.
Assistant Professor of Pediatrics
Medical Director of Newborn Metabolic Screening Program
University of Utah School of Medicine
Salt Lake City, Utah
In absentia:
Edith Irby Jones, M.D.
Immediate Past President
National Medical Association
Houston, Texas
George I. Lythcott, M.D.
Dean
City University of New York Medical School
New York, New York

Speakers

Lori B. Andrews, J.D.
"Overview of Legal Issues"
Research Fellow
American Bar Foundation
Chicago, Illinois
Kwame Anyane-Yeboa, M.D.
"Hemoglobinopathy Screening During Early Pregnancy"
Assistant Professor of Pediatrics
Columbia University
Babies Hospital
New York, New York
James E. Bowman, M.D.
"Legal and Ethical Issues in Newborn Screening"
Professor of Pathology, Medicine
Committee on Genetics and the College
Assistant Dean of Students
Division of Biological Sciences
University of Chicago
Chicago, Illinois
Audrey K. Brown, M.D., F.A.A.P.
"Care of Infants With Sickle Cell Disease: The Ultimate Objective of Newborn Screening"
Professor and Vice Chairman
Department of Pediatrics
Head
Pediatric Hematology and Oncology
Director
Sickle Cell Program
State University of New York Health Science Center at Brooklyn
Brooklyn, New York
Vivien Diaz, M.S.
"The New York Experience"
Genetic Associate/Coordinator
New York Medical College
Lincoln Hospital
Bronx, New York
Ann Earles, R.N., P.N.P.
"Newborn Screening in Sickle Cell Disease: A Nursing Perspective"
Nurse Coordinator
Children's Hospital Sickle Cell Program
University of California at San Francisco
Oakland, California
Roselyn Payne Epps, M.D., M.P.H.
Commentator for the National Medical Association
Chairperson
Council on Maternal and Child Health
National Medical Association
Professor of Pediatrics and Child Health
Howard University College of Medicine
Washington, D.C.
Ruth Faden, Ph.D.
"Parental Consent and Newborn Screening for Sickle Cell Disease and other Hemoglobinopathies"
Professor
Department of Health Policy and Management
Johns Hopkins School of Public Health
Senior Research Scholar
Kennedy Institute of Ethics
Baltimore, Maryland
Michael Garrick, Ph.D.
"Alternative Methods for Screening"
Professor of Biochemistry
Research Associate Professor of Pediatrics
State University of New York
Buffalo, New York
Marilyn H. Gaston, M.D.
"Oral Penicillin Prophylaxis in Children With Sickle Cell Anemia: A Randomized Trial"
Planning Committee Chairperson
Deputy Chief
Sickle Cell Disease Branch
Division of Blood Diseases and Resources
National Heart, Lung, and Blood Institute
National Institutes of Health
Bethesda, Maryland
Frances M. Gill, M.D., M.P.H.
"The Newborn Experience in the Cooperative Study of Sickle Cell Disease"
Associate Professor of Pediatrics
University of Pennsylvania
School of Medicine
Senior Physician
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Lindsey K. Grossman, M.D.
"Followup of a Trait: Urban Setting"
Assistant Professor of Pediatrics
Medical Director
OSU Ambulatory Pediatric Program
Ohio State University College of Medicine
Columbus, Ohio
Ranjeet K. Grover, M.D.
"The Effectiveness of Newborn Screening in New York City"
Director
Genetic Screening Program
New York City Department of Health
New York, New York
Robert Guthrie, M.D., Ph.D.
"Past and Current Aspects of Screening for Hemoglobinopathies"
Professor Emeritus of Pediatrics
Department of Pediatrics
State University of New York at Buffalo
Buffalo, New York
Herman F. Harris, M.S.W.
"Followup of a Trait: Rural"
Research Scientist
Comprehensive Sickle Cell Center
Medical College of Georgia
Augusta, Georgia
Mary S. Harris, Ph.D.
"The Georgia Experience With Newborn Screening for Hemoglobinopathies"
Genetics Consultant and President
Harris & Associates, Ltd.
Atlanta, Georgia
Deborah D. Henry
"Parental Perspectives of Screening"
Public Presenter
New York, New York
Sandra Hernandez, M.S.W., A.C.S.W.
"Care of Infants With Disease: The Ultimate Objective of Newborn Screening--The Social Work Perspective"
Senior Social Worker
Department of Pediatrics
St. Luke's-Roosevelt Hospital
New York, New York
Neil A. Holtzman, M.D., M.P.H.
Commentator for American Academy of Pediatrics
Senior Analyst
Office of Technology Assessment
Congress of the United States
Washington, D.C.
Titus H.J. Huisman, Ph.D., D.Sc.
"High Pressure Liquid Chromatography"
Regents' Professor and Chairman
Department of Cell and Molecular Biology
Director
Comprehensive Sickle Center
Medical College of Georgia
Augusta, Georgia
Deborah Hurst, M.D.
"Approach to Screening: The Northern California Experience"
Codirector, Sickle Cell Program
Associate Hematologist
Children's Hospital Oakland
Oakland, California
Ruth Isaac-Gumbs
"Parental Perspectives of Screening"
Public Presenter
Washington, D.C.
Thomas R. Kinney, M.D.
"Comparison of Stability of Heparinized and Blood Dried on Filter Paper"
Associate Professor of Pediatrics
Department of Pediatrics
Duke University Medical Center
Durham, North Carolina
Klara M. Kleman, M.S., M.T.
"Thin Layer Isoelectric Focusing: Technical Aspects of Hemoglobin Screening in the Newborn Period"
Supervisor
Hemoglobinopathy Laboratory
Children's Hospital Oakland
Oakland, California
Jeffrey S. Lobel, M.D.
"The Clinical Value of Screening Umbilical Cord Blood for Hemoglobinopathy in Cincinnati"
Associate in Pediatric Subspecialties
Department of Pediatrics
Geisinger Medical Center
Danville, Pennsylvania
Astrid K. Mack, Ph.D.
"The Florida Experience"
Research Associate Professor of Medicine
University of Miami School of Medicine
Miami, Florida
Allan S. Noonan, M.D., M.P.H.
"Public Health Perspectives"
Public Presenter
Chief
Genetic Diseases Branch
Division of Maternal and Child Health
Health Resources and Services Administration
Public Health Service
Department of Health and Human Services
Rockville, Maryland
Kwaku Ohene-Frempong, M.D.
"Selective Testing of Newborns for Sickle Cell Disease"
Director
Sickle Cell Program
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania
Howard A. Pearson, M.D.
"Neonatal Programs for Sickle Cell Anemia: A Historical Review"
Professor of Pediatrics
Department of Pediatrics
Yale University School of Medicine
New Haven, Connecticut
Darnelle D. Pinkard, M.S.W.
Commentator for the National Sickle Cell Clinics Foundation, Inc.
President
National Sickle Cell Clinics
Foundation, Inc.
Houston, Texas
Darleen Powars, M.D.
"Diagnosis at Birth Does Improve Survival of Children With Sickle Cell Anemia"
Professor of Pediatrics
Chief
Hematology/Oncology Section
University of Southern California School of Medicine
Los Angeles, California
Yolanda Rooks, R.N., P.N.P.
"Screening the Mother During Early Pregnancy"
Patient Care Coordinator
Adult Sickle Cell Center
Alta Bates Hospital
Berkeley, California
Peter T. Rowley, M.D.
"Receptivity of Mothers to Identification of Sickle Trait in Newborns"
Professor of Medicine, Pediatrics, Genetics and Microbiology
Acting Chairman
Division of Genetics
University of Rochester School of Medicine
Rochester, New York
Lewis Schedlbauer
"Cellulose Acetate/Citrate Agar Electrophoresis of Filter Paper Hemolysates from Heelstick"
Supervisor
Hemoglobin Screening Laboratory
New York State Health Department
Wadsworth Center for Laboratories and Research
Albany, New York
Roland B. Scott, M.D.
Commentator for the Comprehensive Sickle Cell Center Directors
Distinguished Professor of Pediatrics and Child Health
Director
Center for Sickle Cell Disease
Howard University
Washington, D.C.
Bradford L. Therrell, Jr., Ph.D.
"Experiences With Sickle Hemoglobin Testing in the Texas Newborn Screening Program"
Director, Chemical Services Division
Texas Department of Health
Austin, Texas
Elliott Vichinsky, M.D.
"The Effect of Newborn Screening on Mortality in Sickle Cell Disease"
Associate Director
Department of Hematology/Oncology
Children's Hospital Oakland
Oakland, California
Bailus Walker, Jr., Ph.D., M.P.H.
Public
Presenter for the Massachusetts Department of Public Health
Commissioner
Massachusetts Department of Public Health
President-Elect
American Public Health Association
Boston, Massachusetts
Charles F. Whitten, M.D.
Commentator for the National Association of Sickle Cell Disease
President
National Association for Sickle Cell Disease, Inc.
Professor of Pediatrics
Associate Dean for Curricular Affairs
Wayne State University School of Medicine
Detroit, Michigan

Planning Committee

Marilyn H. Gaston, M.D.
Planning Committee Chairperson
Deputy Chief
Sickle Cell Disease Branch
Division of Blood Diseases and Resources
National Heart, Lung, and Blood Institute
National Institutes of Health
Bethesda, Maryland
Michael J. Bernstein
Director of Communications
Office of Medical Applications of Research
National Institutes of Health
Bethesda, Maryland
Charlotte Catz, M.D.
Chief
Pregnancy and Perinatology Branch
Center for Research for Mothers and Children
National Institute of Child Health and Human Development
National Institutes of Health
Bethesda, Maryland
Susan M. Clark
Social Science Analyst
OMAR Coordinator
Office of Medical Applications of Research
National Institutes of Health
Bethesda, Maryland
Edward A. Duffy, M.P.H.
Deputy Chief
Genetic Disease Services Branch
Division of Maternal and Child Health
Health Resources and Services Administration
Public Health Service
Department of Health and Human Services
Rockville, Maryland
Carol Florance
Writer/Editor
Public Inquiries and Reports Branch
National Heart, Lung, and Blood Institute
National Institutes of Health
Bethesda, Maryland
Irene Forsman, M.S., R.N.
Nurse Consultant
Genetic Disease Services Branch
Division of Maternal and Child Health
Health Resources and Services Administration
Public Health Service
Department of Health and Human Services
Rockville, Maryland
Mary S. Harris, Ph.D.
Genetics Consultant and President
Harris & Associates, Ltd.
Atlanta, Georgia
Bertram Lubin, M.D.
Director of Medical Research
Children's Hospital Medical Center
Co-Director
Northern California Sickle Cell Center
Oakland, California
Allan S. Noonan, M.D., M.P.H.
Chief
Genetic Disease Services Branch
Division of Maternal and Child Health
Health Resources and Services Administration
Public Health Service
Department of Health and Human Services
Rockville, Maryland
Kenneth A. Pass, Ph.D.
Director
Newborn Screening Program
New York State Department of Health
Wadsworth Laboratories
Albany, New York
Howard A. Pearson, M.D.
Professor of Pediatrics
Department of Pediatrics
Yale University School of Medicine
New Haven, Connecticut
Doris L. Wethers, M.D.
Conference and Panel Chairperson
Director
Comprehensive Sickle Cell Center
St. Luke's-Roosevelt Hospital Center
Associate Professor of Clinical Pediatrics
Columbia University School of Physicians and Surgeons
New York, New York

Conference Sponsors

National Heart, Lung, and Blood Institute
Claude Lenfant, M.D.
Director
National Institute of Child Health and Human Development
Duane Alexander, M.D.
Director
Division of Maternal and Child Health
Bureau of Health Care Delivery and Assistance
Health Resources and Services Administration
Vince L. Hutchins, M.D.
Director
Office of Medical Applications of Research
Itzhak Jacoby, Ph.D.
Acting Director

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