Document Detail

Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies.
MedLine Citation:
PMID:  19591814     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: This review emphasizes the need for adapted prevention strategies in areas where severe hemoglobin disorders are endemic and in non-endemic countries where large immigrant groups are living. DESIGN AND METHODS: Screening versus carrier diagnostics upon medical versus ethnic indication, ethical issues associated with carrier screening, information to multiethnic carriers and practical aspects of laboratory diagnostics are discussed. RESULTS AND DISCUSSION: School screening is a valid option but needs follow up until partner choice. Premarital carrier diagnostics upon ethnic indication needs motivated GP's and might implicate (female) stigmatization in particular cultures. Early pregnancy is the best moment regarding the motivation, but needs rapid molecular analysis when a couple at risk seeks prevention. Neonatal screening is feasible when the organization is already present for other diseases and may offer retrospective as well as prospective primary prevention when all carriers are reported. Problems to be expected while implementing neonatal screening are summarized.
Piero C Giordano
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Publication Detail:
Type:  Journal Article     Date:  2009-07-08
Journal Detail:
Title:  Clinical biochemistry     Volume:  42     ISSN:  1873-2933     ISO Abbreviation:  Clin. Biochem.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-27     Completed Date:  2010-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0133660     Medline TA:  Clin Biochem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1757-66     Citation Subset:  IM    
Hemoglobinopathies Laboratory, Human and Clinical Genetics Department, Leiden University Medical Center, O&O Building, Einthovenweg 20, 2333 ZC, PO Box 9600, 2300 RC Leiden, The Netherlands.
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MeSH Terms
Abortion, Induced
Ethnic Groups*
Europe / epidemiology
Genetic Counseling
Genetic Testing
Hemoglobinopathies / diagnosis,  epidemiology,  prevention & control*,  therapy
Infant, Newborn
Laboratory Techniques and Procedures
Neonatal Screening
Premarital Examinations
Reproducibility of Results

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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