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1.
Emerg Infect Dis ; 27(6): 1737-1740, 2021.
Article in English | MEDLINE | ID: mdl-33871331

ABSTRACT

We documented 4 cases of severe acute respiratory syndrome coronavirus 2 reinfection by non-variant of concern strains among healthcare workers in Campinas, Brazil. We isolated infectious particles from nasopharyngeal secretions during both infection episodes. Improved and continued protection measures are necessary to mitigate the risk for reinfection among healthcare workers.


Subject(s)
COVID-19/diagnosis , Health Personnel , Reinfection/diagnosis , Reinfection/virology , SARS-CoV-2/isolation & purification , Virus Shedding , Adult , Brazil/epidemiology , COVID-19/epidemiology , Female , Humans , Middle Aged , Reinfection/therapy
2.
Pediatr Blood Cancer ; 65(12): e27413, 2018 12.
Article in English | MEDLINE | ID: mdl-30151892

ABSTRACT

Hemoglobin (Hb) Zürich-Albisrieden (ZA) [α2 59(E8) Gly > Arg; HBA2:c.178G > C] is a rare and highly unstable α-chain variant. A few simple and compound heterozygotes (αZA α/αα and -/αZA α, respectively) have been described so far in Switzerland and China. We describe here a case of homozygosity for the Hb ZA mutation (αZA α/αZA α) in a Brazilian child with severe congenital hemolytic anemia and ineffective erythropoiesis.


Subject(s)
Hemoglobins, Abnormal/genetics , Homozygote , alpha-Thalassemia/genetics , beta-Thalassemia/genetics , Brazil , Genotype , Humans , Infant , Male , Mutation , Pedigree , Phenotype
3.
Genet. mol. biol ; 40(4): 768-773, Oct.-Dec. 2017. tab, graf
Article in English | LILACS | ID: biblio-892450

ABSTRACT

Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

4.
Genet Mol Biol ; 40(4): 768-773, 2017.
Article in English | MEDLINE | ID: mdl-28981562

ABSTRACT

Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

5.
Hemoglobin ; 41(3): 203-208, 2017 May.
Article in English | MEDLINE | ID: mdl-28670945

ABSTRACT

Hb Bristol-Alesha [HBB: c.202G>A; ß 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the ß-globin gene that leads to the replacement of valine by methionine in the corresponding position of the ß-globin chain. The methionine residue is subsequently modified to aspartic acid [ß67(E11)Val-Met→Asp], possibly by autoxidation mechanisms. This substitution prevents normal non-polar binding of Val67 to the heme group, resulting in molecular instability and severe hemolysis. We identified Hb Bristol-Alesha (in the heterozygous state), as the cause of severe congenital hemolytic anemia in an 11-month-old girl of mixed (native Indian and European) ethnic origin from the Midwestern region of Brazil, whose parents were clinically and hematologically normal. The mutation on the ß-globin gene was found to have been coinherited with the α212 patchwork allele.


Subject(s)
Alleles , Amino Acid Substitution , Anemia, Hemolytic, Congenital/diagnosis , Anemia, Hemolytic, Congenital/genetics , Hemoglobins, Abnormal/genetics , Inheritance Patterns , Mutation , beta-Globins/genetics , Adult , Anemia, Hemolytic, Congenital/epidemiology , Child, Preschool , DNA Mutational Analysis , Erythrocyte Indices , Female , Genetic Association Studies , Humans , Infant , Male , Middle Aged , Severity of Illness Index
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