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

Silva MR, Sendin SM, Araujo IC, Pimentel FS, Viana MB - Rev Bras Hematol Hemoter (2013)

Bottom Line: Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's.Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil.Additional tests are necessary for the correct identification of hemoglobin variants.

View Article: PubMed Central - HTML - PubMed

Affiliation: Universidade Federal de Minas Gerais - UFMG, Belo Horizonte, MG, Brazil.

ABSTRACT

Objective: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program.

Methods: β(S) 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.

Results: THE 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.

Conclusion: Apparently 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.

No MeSH data available.


Related in: MedlinePlus

Electrophoresis of hemoglobin in alkaline pH (above) or acid pH (below), inagarose gel. Sample 8 comes from a control AS. Sample 1 comes from the child withHb Etobicoke; Samples 2 and 3 come from a child and his mother, both with Hb St.Luke's associated with Hb S; Sample 4 comes from a child with Hb Ottawa; Samples 5and 7 come from children with Hb Hasharon; and Sample 6 comes from the father ofthe child of Sample 5
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f04: Electrophoresis of hemoglobin in alkaline pH (above) or acid pH (below), inagarose gel. Sample 8 comes from a control AS. Sample 1 comes from the child withHb Etobicoke; Samples 2 and 3 come from a child and his mother, both with Hb St.Luke's associated with Hb S; Sample 4 comes from a child with Hb Ottawa; Samples 5and 7 come from children with Hb Hasharon; and Sample 6 comes from the father ofthe child of Sample 5

Mentions: In Hb electrophoresis on agarose gels (Figure 4),made as part of the medical consultation of these children, Hb Etobicoke and Hb Ottawahad Hb AS profiles in alkaline medium and Hb AA in acid pH. The child with Hb St.Luke'sco-inherited with Hb S had Hb AS profile in both pHs, because in alkaline pH HbSt. Luke's overlaps with Hb S and in acid medium with Hb A. Hb Hasharon migrates like HbS both in alkaline and acid media.


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

Silva MR, Sendin SM, Araujo IC, Pimentel FS, Viana MB - Rev Bras Hematol Hemoter (2013)

Electrophoresis of hemoglobin in alkaline pH (above) or acid pH (below), inagarose gel. Sample 8 comes from a control AS. Sample 1 comes from the child withHb Etobicoke; Samples 2 and 3 come from a child and his mother, both with Hb St.Luke's associated with Hb S; Sample 4 comes from a child with Hb Ottawa; Samples 5and 7 come from children with Hb Hasharon; and Sample 6 comes from the father ofthe child of Sample 5
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3672120&req=5

f04: Electrophoresis of hemoglobin in alkaline pH (above) or acid pH (below), inagarose gel. Sample 8 comes from a control AS. Sample 1 comes from the child withHb Etobicoke; Samples 2 and 3 come from a child and his mother, both with Hb St.Luke's associated with Hb S; Sample 4 comes from a child with Hb Ottawa; Samples 5and 7 come from children with Hb Hasharon; and Sample 6 comes from the father ofthe child of Sample 5
Mentions: In Hb electrophoresis on agarose gels (Figure 4),made as part of the medical consultation of these children, Hb Etobicoke and Hb Ottawahad Hb AS profiles in alkaline medium and Hb AA in acid pH. The child with Hb St.Luke'sco-inherited with Hb S had Hb AS profile in both pHs, because in alkaline pH HbSt. Luke's overlaps with Hb S and in acid medium with Hb A. Hb Hasharon migrates like HbS both in alkaline and acid media.

Bottom Line: Two associations with hemoglobin S were found: one with hemoglobin Ottawa and one with hemoglobin St Luke's.Apparently these are the first cases of hemoglobin Ottawa, St Luke's, Etobicoke and the α212 gene described in Brazil.Additional tests are necessary for the correct identification of hemoglobin variants.

View Article: PubMed Central - HTML - PubMed

Affiliation: Universidade Federal de Minas Gerais - UFMG, Belo Horizonte, MG, Brazil.

ABSTRACT

Objective: To characterize alpha-chain variant hemoglobins with electric mobility similar to that of hemoglobin S in a newborn screening program.

Methods: β(S) 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.

Results: THE 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.

Conclusion: Apparently 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.

No MeSH data available.


Related in: MedlinePlus