BackgroundSeveral studies have evaluated the oxidant and antioxidant status of thalassemia
patients but most focused mainly on the severe and intermediate states of the
disease. Moreover, the oxidative status has not been evaluated for the different
beta-thalassemia mutations. ObjectiveTo evaluate lipid peroxidation and Trolox equivalent antioxidant capacity in
relation to serum iron and ferritin in beta thalassemia resulting from two
different mutations (CD39 and IVS-I-110) compared to individuals without
beta-thalassemia. MethodsOne hundred and thirty subjects were studied, including 49 who were heterozygous
for beta-thalassemia and 81 controls. Blood samples were subjected to screening
tests for hemoglobin. Allele-specific polymerase chain reaction was used to
confirm mutations for beta-thalassemia, an analysis of thiobarbituric acid
reactive species was used to determine lipid peroxidation, and Trolox equivalent
antioxidant capacity evaluations were performed. The heterozygous beta-thalassemia
group was also evaluated for serum iron and ferritin status. ResultsThiobarbituric acid reactive species (486.24 ± 119.64 ng/mL) and Trolox equivalent
antioxidant capacity values (2.23 ± 0.11 mM/L) were higher in beta-thalassemia
heterozygotes compared to controls (260.86 ± 92.40 ng/mL and 2.12 ± 0.10 mM/L,
respectively; p-value < 0.01). Increased thiobarbituric acid reactive species
values were observed in subjects with the CD39 mutation compared with those with
the IVS-I-110 mutation (529.94 ± 115.60 ng/mL and 453.39 ± 121.10 ng/mL,
respectively; p-value = 0.04). However, average Trolox equivalent antioxidant
capacity values were similar for both mutations (2.20 ± 0.08 mM/L and 2.23 ± 0.12
mM/L, respectively; p-value = 0.39). There was no influence of serum iron and
ferritin levels on thiobarbituric acid reactive species and Trolox equivalent
antioxidant capacity values. ConclusionThis study shows an increase of oxidative stress and antioxidant capacity in
beta-thalassemia heterozygotes, mainly in carriers of the CD39 mutation.
OBJECTIVE: To analyze the neonatal screening program for hemoglobinopathies in São Carlos,
Southeast Brazil, by investigating a series of cases in which the screening test
was abnormal. More specifically, it was aimed to know the information regarding
the neonatal screening received by mothers at the hospital and at primary health
care, in addition to information related to genetic counseling. METHODS: A descriptive study that enrolled 119 mothers, accounting for 73% of all children
born between 2010 and 2011 with abnormal results of neonatal screening for
hemoglobinopathies. The mothers completed a questionnaire that assessed the
information received at hospital and primary health care, and issues related to
genetic counseling. Descriptive statistics was performed. RESULTS: Of the 119 participating mothers, 69 (58%) had children with sickle cell trait,
22 (18.5%) with hemoglobin C trait, 18 (15.1%) with alpha thalassemia trait and,
in 10 cases (8.4%), the result was inconclusive. At the hospital, 118 mothers
(99.2%) received information about where to go to collect the test and 115 (96.6%)
were informed about the correct time to collect the test. Only 4 mothers (3.4%)
were informed about which diseases are investigated and the risks of not
performing the screening. Seventeen mothers (14.3%) recognized the difference
between trait and disease, and 42 (35.3%) considered that a positive screening
test could have implications for future pregnancies. In 70 cases (58.8%), the
child's physician was not informed about the screening test results. CONCLUSIONS: The neonatal screening program needs further improvement. In both scenarios
investigated, health professionals demonstrated a lack of training in providing
information to mothers and families.
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