Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser&gt;Arg; HBA212:c.255C&gt;G]

Silva, Marcilene Rezende; Sendin, Shimene Mascarenhas; Viana, Marcos Borato

doi:10.1007/s00277-012-1497-z

Cited by 2 publications

(3 citation statements)

References 9 publications

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“…* Co-inheritance with Hb S: one in five cases of Hb Ottawa, and one case of Hb St. Luke's ¥ Case already published () ; additional information is provided in the present study‡ The 96 cases of Hb Stanleyville-II (11 17…”

Section: Resultsmentioning

confidence: 83%

“…All were born in the first six years of the program. Resulting from acquired experience, children were considered in the subsequent years as carriers of "rare" Hbs to be further investigated, which materialized in the present study and in others (11, 12, 17) . The comparison of the IEF gels at birth and at six months of life helps to correct the interpretation of data.…”

Section: Discussionmentioning

confidence: 99%

“…Hb Stanleyville-II, in 96 children, has already been thoroughly described (11) . The present report comprises 14 patients, including one with Hb Etobicoke for which further information is provided, in addition to what was previously reported (12) . Beta chain variants are not part of the current study.…”

Section: Methodsmentioning

confidence: 99%

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Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

Silva

Sendin

Araujo

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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ObjectiveTo characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program. MethodsβS allele and alpha-thalassemia deletions were investigated in 14 children who had undefined hemoglobin at birth and an electrophoretic profile similar to that of hemoglobin S when they were six months old. Gene sequencing and restriction enzymes (DdeI, BsaJI, NlaIV, Bsu36I and TaqI) were used to identify hemoglobins. Clinical and hematological data were obtained from children who attended scheduled medical visits. ResultsThe following alpha chain variants were found: seven children with hemoglobin Hasharon [alpha2 47(CE5) Asp>His, HbA2:c.142G>C], all associated with alpha-thalassemia, five with hemoglobin Ottawa [alpha1 15(A13) Gly>Arg, HBA1:c.46G>C], one with hemoglobin St Luke's [alpha1 95(G2) Pro>Arg, HBA1:c.287C>G] and another one with hemoglobin Etobicoke [alpha212 84(F5) Ser>Arg, HBA212:c.255C>G]. Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's. The mutation underlying hemoglobin Etobicoke was located in a hybrid α212 allele in one child. There was no evidence of clinically relevant hemoglobins detected in this study. ConclusionApparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil. The hemoglobins detected in this study may lead to false diagnosis of sickle cell trait or sickle cell disease when only isoelectric focusing is used in neonatal screening. Additional tests are necessary for the correct identification of hemoglobin variants.

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Section: Resultsmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

Silva

Sendin

Araujo

et al. 2013

Revista Brasileira De Hematologia E Hemoterapia

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Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met;HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

et al. 2017

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Hb Bristol-Alesha [HBB: c.202G>A; β 67 Val>Met] is a rare structural variant of hemoglobin (Hb) resulting from a GTG>ATG substitution at codon 67 of the β-globin gene that leads to the replacement of valine by methionine in the corresponding position of the β-globin chain. The methionine residue is subsequently modified to aspartic acid [β67(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 β-globin gene was found to have been coinherited with the α212 patchwork allele.

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Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G]

Cited by 2 publications

References 9 publications

Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program

Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met;HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia

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