Search Results: MCHLine

Annotation: This fact sheet provides answers to frequently asked questions about sickle cell trait. It explains the differences between sickle cell trait and sickle cell disease; explains how someone acquires the trait and who is affected by it; explains the health complications that may result from having the trait; and describes the blood test that can determine whether or not someone has the trait. The fact sheet also provides statistics on the chances that a baby will acquire sickle cell trait, based on whether or not one or both parents have either the trait or the disease.

Contact: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30329-4027, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: [email protected] Web Site: http://www.cdc.gov/ncbddd Available from the website.

• PDF

Keywords: Blood and lymphatic diseases, Consumer education materials, Screening tests, Sickle cell disease, Sickle cell trait

Annotation: This briefing paper outlines issues surrounding the screening of young athletes for their sickle disease carrier status (sickle cell trait), a genetic condition. The report discusses research findings and reports on health outcomes of individuals with sickle sell trait, public health implications of the National Collegiate Athletic Association rule on testing athletes for sickle cell trait, and recommendations. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

• PDF

Keywords: Athletes, College students, Genetic disorders, Genetic screening, Public policy, Research, Sickle cell trait, Testing

Annotation: This brochure describes how sickle cell trait is different from sickle cell disease, and explains how it is genetically acquired. It also discusses genetic testing for the trait; offers guidance on talking with children who have the trait; and provides a list of organizations that can provide additional information on sickle cell trait and the newborn screening program in the state of Wisconsin.

Contact: Wisconsin Newborn Screening Laboratory, University of Wisconsin at Madison, 465 Henry Mall, Madison, WI 53706, Telephone: (608) 262-1293 Fax: (608) 262-3257 Web Site: http://www.slh.wisc.edu Available from the website.

• PDF

Keywords: Genetic disorders, Genetic screening, Screening tests, Sickle cell trait, State programs, Wisconsin

Annotation: This report describes a project in Brooklyn, NY from 2002-2006 to broaden education, community-based screening and genetic counseling, and to increase the reach of at-risk community members who lack understanding of the impact of sickle cell disease upon their communities. Contents include an overview of the program needs and goals and objectives, progress to date, efforts in the communities, and the consortium and other collaborations. Appendices include questionnaires, sample forms and reports, processes, workshop questions and tests, and events held. [Funded by the Maternal and Child Health Bureau]

Contact: Brooklyn Hospital Center, Genetics Unit, 121 DeKalb Avenue, Brooklyn, NY 11201, Telephone: (718) 403-8032 Web Site: http://www.tbh.org/healthcare-services/reproductive-genetics

Keywords: Blacks, Community based services, Genetic screening, Hemoglobinopathies, Neonatal screening, New York, , Outreach, Sickle cell disease, Sickle cell trait

Annotation: This report describes a project to strengthen and improve the follow-up, education, counseling, and coordination of care for families of infants who test positive for sickle cell disease or sickle cell trait. Report contents include descriptions of the population serviced in the five county region of Southeast Florida and barriers to service delivery, goals and objectives of the project, an outline of process measures, and a list of highlights of the project years 2003-2005. Appendices include books, booklets, and other handout informational materials for parents of children who tested positive for sickle cell disease/trait. Also included are a DVD and a VHS tape with a new born screening documentary video in English and Creole.

Contact: Sickle Cell Foundation of Palm Beach County, 1600 North Australian Avenue, West Palm Beach, FL 33407-5621, Telephone: (561) 833-3113 Fax: (561) 659-4505 Web Site: http://www.sicklecellpalmbeach.org

Keywords: Genetics education, Final reports, Florida, Genetic counseling, Genetic screening, Hemoglobinopathies, Local programs, Non English language materials, Sickle cell disease

Annotation: This updated and expanded fourth edition of a clinical guide for health professionals was developed by leading pediatricians, nurses, hematologists, and internists. The guide summarizes collective experiences with various therapeutic regimens. It includes a new section on diagnosis and counseling, with information on neonatal screening and genetic counseling, Web listings, and other useful resources. The guide reflects the most recent advances and modifications in the clinical management of sickle cell disease as well as findings from the Preoperative Transfusion Study, the Prophylactic Penicillin Trial II, and the Multicenter Hydroxyurea Study. Also included is epidemiological data from the Cooperative Study of Sickle Cell Disease.

Contact: National Heart, Lung, and Blood Institute Health Information Center, P.O. Box 30105, Bethesda, MD 20824-0105, Telephone: (301) 592-8573 Secondary Telephone: (240) 629-3255 Fax: (301) 592-8563 E-mail: [email protected] Web Site: http://www.nhlbi.nih.gov/health/infoctr/index.htm Available from the website. Document Number: NIH Pub. No. 04-2117.

• Link

Keywords: Counseling, Diagnosis, Disease management, Genetic counseling, Guidelines, Neonatal screening, Sickle cell disease, Therapeutics

Annotation: This report describes the Georgia Newborn Screening Program, a program requiring that every live born infant have a blood test for nine metabolic disorders (phenylketonuria, congenital hypothyroidism, maple syrup urine disease, galactosemia, tyrosinemia, homocystinuria, congenital adrenal hyperplasia, biotinidase deficiency, medium-chain acyl-CoA dehydrogenase deficiency) and for sickle cell disorders. The report provides an overview of the program; discusses its screening, testing and reporting, and diagnostic activities; and describes its follow-up programs. Education resources are also included.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website.

• Undated Edition
• 2004 Edition

Keywords: Biotinidase deficiency, Blood tests, Congenital adrenal hyperplasia, Congenital hypothyroidism, Diagnosis, Galactosemia, Georgia, Homocystinuria, Maple syrup urine disease, Metabolic diseases, Neonatal screening, Newborn infants, Phenylketonuria, Resource materials, Sickle cell disease, State programs, Tyrosinemia

Annotation: This manual provides information about the diagnosis of sickle cell disease, an overview of comprehensive care, and clinical paths and protocols for the management of some of the more common acute and chronic complications. The manual includes the following main sections: (1) principles of care for children and adolescents with sickle cell disease, (2) diagnostic testing for the common sickle cell syndromes, (3) newborn screening follow-up guidelines, (4) sickle cell disease -- comprehensive care, (5) acute illness in sickle cell disease: illness requiring urgent medical care, (6) transfusion therapy for acute complications, (7) clinical care paths, (8) general anesthesia and surgery, (9) chronic transfusion protocol, (10) hydroxyurea protocol, (11) hematopoietic stem cell transplantation, (12) transcranial doppler ultrasonography, and (13) references. Two appendices include a list of sickle cell disease care consortium members and a list of other contributors. [Funded in part by the Maternal and Child Health Bureau]

Contact: Sickle Cell Information Center, Grady Memorial Hospital, P. O. Box 109, 80 Jessie Hill Jr. Drive, S. E., Atlanta, GA 30303, Telephone: (404) 616-3572 Fax: (404) 616-5998 E-mail: [email protected] Web Site: http://www.scinfo.org/ Available from the website.

• Link

Keywords: Acute diseases, Adolescents, Children, Chronic illnesses and disabilities, Comprehensive health care, Diagnosis, Disease management, Guidelines, Management, Neonatal screening, Protocols, Sickle cell disease, Sickle cell screening

Annotation: These proceedings report on a conference held in Washington, DC in June, 1993. They review the progress made in providing newborn screening programs for sickle cell and other hemoglobinopathies, the persistence of existing problems, and new issues that challenge service providers. Specific topics include model sickle cell programs, clinical management and psycho-social issues, ethical-legal issues, and public health issues. The conference and these proceedings were funded by the Maternal and Child Health Bureau, U.S. Department of Health and Human Services.

Contact: Maternal and Child Health Library at Georgetown University, E-mail: [email protected] Web Site: https://www.mchlibrary.org Available from the website. Document Number: HRSA Info. Ctr. MCHH018.

• Link

Keywords: Conference proceedings, Neonatal screening, Sickle cell disease

Annotation: This directory lists genetic service providers in Texas. It is organized by category of service including medical genetics programs, biochemical genetics laboratories, cytogenetics laboratories, DNA laboratories, and sickle cell anemia programs. Each entry includes the program name, address, phone, program director, contact person, and a list of the clinical services provided. Many of the entries include information about cost reimbursement. [Funded by the Maternal and Child Health Bureau]

Contact: Texas Department of State Health Services, Children with Special Health Care Needs Services Program, MC 1938, PO Box 149347, Austin, TX 78714, Telephone: (512) 458-7355 Secondary Telephone: (800) 252-8023 Fax: (512) 458-7417 Web Site: http://www.dshs.state.tx.us/cshcn/default.shtm Available in libraries.

Keywords: DNA, Directories, Family support services, Genetic counseling, Genetic screening, Prenatal diagnosis, Sickle cell disease, Special health care needs

Annotation: The objective of this study was to demonstrate the applicability of DNA techniques to newborn screening for sickle cell disease. The current practice in Texas was universal neonatal screening; small samples of blood were dried on filter paper and analyzed by protein electrophoresis. The primary aim of this project was to confirm or exclude the diagnosis of sickle cell disease by DNA genotyping directly from the original newborn screening filter paper. The purported advantages of this approach included earlier, more definitive notification of families with affected neonates. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB92-135813.

Keywords: Laboratories, Neonatal screening, Newborns, Sickle cell disease, Tests

Annotation: These are the proceedings of the 6th National Neonatal Screening Symposium, held May 22-25, 1988 in Portland, Oregon. The symposium brings together practitioners, laboratory specialists, program managers, and medical consultants with an interest in this field. Some of the major topics covered in the contributed papers include laboratory considerations, maternal and child health considerations, computerization, hemoglobin screening, and HIV screening. The "National Neonatal Screening Symposium: Program and Abstracts" are available in a separate volume.

Contact: Association of State and Territorial Public Health Laboratory Directors, 1211 Connecticut Avenue, N.W., Suite 608, Washington, DC 20036, Telephone: (202) 822-5227 Contact Phone: (703) 556-9222

Keywords: Conference proceedings, HIV, Hemoglobinopathies, Neonatal screening, Sickle cell disease

Annotation: It was the purpose of this study to examine a group of infants identified in the Newborn Screening Program with a variant type of hemoglobin. Through correlation of initial test results, repeat hemoglobin analysis, and medical histories of the first year of life, conclusions regarding the effect of these hemoglobin variants on the child's health were made. Analysis of the data then allowed recommendations regarding appropriate followup procedures for these newborns. In no case could a linkage between the hemoglobin variant and any medical events of the first year be established. These results suggested that even though newborn screening may not definitively identify all variant hemoglobins, those types which are grouped in the broad class "variant" result in no significant medical sequelae for those infants. Accordingly, no recommendation for changes in the newborn followup procedure for this group of newborns was deemed necessary. [Funded by the Maternal and Child Health Bureau]

Contact: National Technical Information Service, O.S. Department of Commerce, 5301 Shawnee Road, Alexandria, VA 22312, Telephone: (703) 605-6050 Secondary Telephone: (888) 584-8332 E-mail: [email protected] Web Site: http://www.ntis.gov Document Number: NTIS PB88-173661.

Keywords: Infants, Neonatal screening, Newborns, Sickle cell disease

Annotation: This publication introduces the problems of sickle cell anemia. The topics discussed are related nomenclature, prevalence, genetic considerations, pathophysiology, pathological findings, clinical manifestations by age group, laboratory findings, screening, diagnosis, prognosis, management, traits, and variants.

Keywords: Diagnosis, Genetic screening, Genetics, Pathology, Sickle cell disease