[Diagnosis of hemoglobinopathies in newborns in Venezuela hospitals].
OBJECTIVE
Hemoglobinopathies are the most common hereditary disorders in humans representing a public health problem in Venezuela. In this study the prevalence of hemoglobinopathies was evaluated in newborns from different areas of Venezuela, in cooperation with the neonatal screening system of the Study Unit of Inborn Errors of Metabolism (IDEA).


METHODS
The heel blood samples of 101,301 newborns were analysed by high performance liquid chromatography (HPLC-CE) technique using Variant* Bio Rad System with the Sickle Cell Short program for the filter paper samples in and the Beta Tal Short program for the family studies.


RESULTS
We found a high prevalence of newborns heterozygous for hemoglobin S and C (Hb S and Hb C). It was observed that 1.96% (1989) of the newborns were carriers, with Hb FAS (67.92) being the most frequent phenotype, followed by Hb FAC (23.18%), Hb FAD (7.49%), Hb FSC (0.96%),) and Hb FSD (0.20%). All the neonatal positives cases were confirmed at 3 months of age.


CONCLUSIONS
The frequencies of the variants found in this study confirms that the hemoglobin disorders are a public health problem in Venezuela, emphasizing the importance of instituting a national program of screening for hemoglobinopathies throughout the country, comprising not only an early treatment, but also an educational program and genetic counseling for the family group.
Hospital Universitario de Caracas, Venezuela.
O García
OG
Giménez
M Chacín
MC
Torrealba
M Bravo
MB
Urquiola
G Gómez
GG
Ortiz
S Montilla
SM
Fonseca
R
R
Merzón
M
M
de Donato
O
O
Castillo
A
A
Arends de Pérez
D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D014687:Venezuela