Hemoglobin screening: response of a Brazilian community to optional programs

Ramalho, Antonio Sérgio; Silva, Roberto Benedito de Paiva e; Teixeira, Rosa Chelminsky; Compri, Mariane B.

doi:10.1590/s0102-311x1999000300016

Cited by 17 publications

(15 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In Southeast Brazil, a frequency of 1.3% of β-thalassemia trait and 0.1% of β-thalassemia major was reported for the general population 12 , while α 2 -thalassemia by a 3.7 kb DNA deletion (α 2 3.7Kb -thalessemia) varied from 20.0% to 25.0% in black populations 13 , and Borges et al 14 found 49.9% of α-thalassemia in adult outpatients seen at the University of Campinas Hospital with microcytosis and hypochromia without anemia. In the Northeast, α 2 3.7Kb -thalessemia was investigated in 106 pregnant women with AC and AA hemoglobin pattern, showing a 21.7% heterozygous and 0.9% homozygous rate for this alteration 15 .…”

Section: Introductionmentioning

confidence: 96%

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

et al. 2005

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 96%

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

et al. 2005

View full text Add to dashboard Cite

show abstract

“…In particular, in southeastern Brazil, a frequency of 1.3% of β‐thalassemia trait carriers (BTC) was reported in the general population , while α‐thalassemia trait carriers (ATC), determined by a 3.7‐kb DNA deletion (–α 3.7 /αα), varied from 20 to 25% in Brazil's African descents and 9 to 12% in general population. Previous studies have shown that the –α 3.7 is the most frequent α‐globin gene deletion in Brazil .…”

mentioning

confidence: 99%

Altered erythropoiesis and iron metabolism in carriers of thalassemia

Guimarães

Cominal

Silva-Pinto

et al. 2014

European J of Haematology

View full text Add to dashboard Cite

The thalassemia syndromes (α- and β-thalassemia) are the most common and frequent disorders associated with ineffective erythropoiesis. Imbalance of α- or β-globin chain production results in impaired red blood cell synthesis, anemia and more erythroid progenitors in the blood stream. While patients affected by these disorders show definitive altered parameters related to erythropoiesis, the relationship between the degree of anemia, altered erythropoiesis and dysfunctional iron metabolism have not been investigated in both α-thalassemia carriers (ATC) and β-thalassemia carriers (BTC). Here we demonstrate that ATC have a significantly reduced hepcidin and increased soluble transferrin receptor levels but relatively normal hematological findings. In contrast, BTC have several hematological parameters significantly different from controls, including increased soluble transferrin receptor and erythropoietin levels. These changings in both groups suggest an altered balance between erythropoiesis and iron metabolism. The index sTfR/log ferrin and (hepcidin/ferritin)/sTfR are respectively increased and reduced relative to controls, proportional to the severity of each thalassemia group. In conclusion, we showed in this study, for the first time in the literature, that thalassemia carriers have altered iron metabolism and erythropoiesis.

show abstract

“…The frequency of β-thal heterozygotes in South and Southeast Brazil is estimated at around 1.0% (8,9), with most carriers being of Italian descent. The β-thal prevalence in North and Northeast Brazil is still undetermined and the few studies from this region to report molecular aspects showed a higher prevalence of HBB: c.92þ6T>C and HBB: c.92þ1G>A.…”

mentioning

confidence: 99%

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

2013

View full text Add to dashboard Cite

β-Thalassemia (β-thal) is a hereditary disease with at least 200 known causative molecular defects, with a limited number of distinct mutations predominating in any given population. The Brazilian population is one of the most heterogeneous in the world. Although occurrences of β-thal in this country have been recognized for a long time and previous studies have shown important regional differences related to the mutational profile, no extensive analysis of mutations of the HBB gene has been carried out in Brazil. We examined 1011 teenagers from Bahia, a state located in the northeast of Brazil. Hematological data were obtained using automated cell counting, hemoglobin (Hb) profiles were studied by high performance liquid chromatography (HPLC), and DNA was analyzed by automated sequencing. None of the four Mediterranean mutations that are most frequently found in South and Southeast Brazil (HBB: c.118C>T; HBB: c.93-21G>A; HBB: c.92+1G>A; HBB: c.92+6T>C), was found to be responsible for thalassemia in the cases that we studied. One heterozygote for a frameshift mutation at codon 44 (-C) was identified. This is the first study to determine the prevalence and profile of β-thal in Bahia State. For the first time in Brazil, we report the occurrence of the HBB: c.135delC mutation in the β-globin gene.

show abstract

Hemoglobin screening: response of a Brazilian community to optional programs

Cited by 17 publications

References 6 publications

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Altered erythropoiesis and iron metabolism in carriers of thalassemia

Prevalence and Molecular Characterization of β-Thalassemia in the State of Bahia, Brazil: First Identification of MutationHBB: c.135delC in Brazil

Contact Info

Product

Resources

About