View
Publication Type
Journal Article
UWI Author(s)
Author, Analytic
Brandelise, Sylvia; Pinheiro, V. ; Gabetta, C. S. ; Hambleton, Ian R. ; Serjeant, Beryl E. ; Serjeant, Graham R.
Author Affiliation, Ana.
Tropical Medicine Research Institute
Article Title
Newborn screening for sickle cell disease in Brazil: The Campinas experience
Medium Designator
n/a
Connective Phrase
n/a
Journal Title
Clinical and Laboratory Haematology
Translated Title
n/a
Reprint Status
Refereed
Date of Publication
2004
Volume ID
26
Issue ID
1
Page(s)
15-19
Language
English
Connective Phrase
n/a
Location/URL
n/a
ISSN
0141-9854
Notes
n/a
Abstract
Newborn screening for sickle cell disease commenced in 1992 in Sao Paulo State and by the end of 2000, the programme covered 78 institutions in 36 municipalities with the screening of 281,884 babies. Initially based on liquid cord blood samples, these are being replaced by dried filter paper capillary samples to ease handling and avoid diagnostic confusion from maternal contamination. The prevalence of sickle cell trait (2.0%) and HbC trait (0.6%) increased significantly between 1996 and 2000, apparently because of improved detection rather than the later introduction of institutions serving populations with higher trait frequencies. There were 29 babies with homozygous sickle cell SS disease and 26 with sickle cell-haemoglobin C (SC) disease, the latter significantly exceeding expectation and possibly attributable to a non - random selection of partners. Sickle cell-beta thalassaemia syndromes were proportionately more common than in Jamaica, and it is possible that this results from interaction with other Brazilian populations carrying higher beta thalassaemia gene frequencies. The frequency of abnormal haemoglobins in this population is lower than in Jamaica, but clinically significant sickle cell disease occurred once in every 5527 births, comparable with the frequencies of other significant inborn errors of metabolism.....
read more