Limits...
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

Products of PCR and PCR-RFLP for the detection of Hb St Luke's (A) and Hb Ottawa(B and C)A) Lanes 1 to 4 show amplicons derived from the exon 2 of theHBA1 gene (651 bp). Lanes 5 to 8 show the restriction productsfrom samples 1 to 4 with the endonuclease NlaIV. Lanes 5 and 6illustrate two samples with the mutation that encodes Hb St Luke's. The fragmentof 171 bp is not present in the wild geneB) Products of simple PCR of exon 1 of HBA1 gene (378 bp)C) Fragments of the samples shown in Figure B cleaved with the endonucleaseBsaJI. The mutation that encodes Hb Ottawa generates afragment of 87 bp shown in lanes 1 to 5, not present in lane 6 from a wild gene.To simplify the visualization of the result only the segment of the gel thatdistinguishes the two alleles is shown.12% polyacrylamide gel with ethidium bromide; MM: molecular marker; bp: basepairs; NC: blank control
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3672120&req=5

f03: Products of PCR and PCR-RFLP for the detection of Hb St Luke's (A) and Hb Ottawa(B and C)A) Lanes 1 to 4 show amplicons derived from the exon 2 of theHBA1 gene (651 bp). Lanes 5 to 8 show the restriction productsfrom samples 1 to 4 with the endonuclease NlaIV. Lanes 5 and 6illustrate two samples with the mutation that encodes Hb St Luke's. The fragmentof 171 bp is not present in the wild geneB) Products of simple PCR of exon 1 of HBA1 gene (378 bp)C) Fragments of the samples shown in Figure B cleaved with the endonucleaseBsaJI. The mutation that encodes Hb Ottawa generates afragment of 87 bp shown in lanes 1 to 5, not present in lane 6 from a wild gene.To simplify the visualization of the result only the segment of the gel thatdistinguishes the two alleles is shown.12% polyacrylamide gel with ethidium bromide; MM: molecular marker; bp: basepairs; NC: blank control

Mentions: Five children had Hb Ottawa [alpha1 15 (A13) Gly> Arg, HBA1: c.46G>C], one Hb St. Luke's [alpha1 95 (G2) Pro> Arg, HBA1:c.287C> G] and another Hb Etobicoke [alpha212 84 (F5) Ser>Arg, HBA212: c.255C> G] as shown in the sequencings (Figure 2A-C). Figures 1C,3A and 3B-C illustrate, respectively, the restriction reactions for Hb Etobicoke(endonuclease Bsu36I), Hb St. Luke's (NlaIVendonuclease) and Hb Ottawa (endonuclease BsaJI).


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)

Products of PCR and PCR-RFLP for the detection of Hb St Luke's (A) and Hb Ottawa(B and C)A) Lanes 1 to 4 show amplicons derived from the exon 2 of theHBA1 gene (651 bp). Lanes 5 to 8 show the restriction productsfrom samples 1 to 4 with the endonuclease NlaIV. Lanes 5 and 6illustrate two samples with the mutation that encodes Hb St Luke's. The fragmentof 171 bp is not present in the wild geneB) Products of simple PCR of exon 1 of HBA1 gene (378 bp)C) Fragments of the samples shown in Figure B cleaved with the endonucleaseBsaJI. The mutation that encodes Hb Ottawa generates afragment of 87 bp shown in lanes 1 to 5, not present in lane 6 from a wild gene.To simplify the visualization of the result only the segment of the gel thatdistinguishes the two alleles is shown.12% polyacrylamide gel with ethidium bromide; MM: molecular marker; bp: basepairs; NC: blank control
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f03: Products of PCR and PCR-RFLP for the detection of Hb St Luke's (A) and Hb Ottawa(B and C)A) Lanes 1 to 4 show amplicons derived from the exon 2 of theHBA1 gene (651 bp). Lanes 5 to 8 show the restriction productsfrom samples 1 to 4 with the endonuclease NlaIV. Lanes 5 and 6illustrate two samples with the mutation that encodes Hb St Luke's. The fragmentof 171 bp is not present in the wild geneB) Products of simple PCR of exon 1 of HBA1 gene (378 bp)C) Fragments of the samples shown in Figure B cleaved with the endonucleaseBsaJI. The mutation that encodes Hb Ottawa generates afragment of 87 bp shown in lanes 1 to 5, not present in lane 6 from a wild gene.To simplify the visualization of the result only the segment of the gel thatdistinguishes the two alleles is shown.12% polyacrylamide gel with ethidium bromide; MM: molecular marker; bp: basepairs; NC: blank control
Mentions: Five children had Hb Ottawa [alpha1 15 (A13) Gly> Arg, HBA1: c.46G>C], one Hb St. Luke's [alpha1 95 (G2) Pro> Arg, HBA1:c.287C> G] and another Hb Etobicoke [alpha212 84 (F5) Ser>Arg, HBA212: c.255C> G] as shown in the sequencings (Figure 2A-C). Figures 1C,3A and 3B-C illustrate, respectively, the restriction reactions for Hb Etobicoke(endonuclease Bsu36I), Hb St. Luke's (NlaIVendonuclease) and Hb Ottawa (endonuclease BsaJI).

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