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De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth.

Viana MB, Belisário AR - Rev Bras Hematol Hemoter (2014)

Bottom Line: The newborn child was treated with methylene blue in an intensive care unit fearing that he had a defective reductase system and exposure to oxidant drugs or toxins.Newborn hemoglobin screening with high performance liquid chromatography was abnormal on the 10th and 45th days but no conclusive diagnosis was reached.Except for cosmetic consequences, the clinical course of patients with hemoglobin M Iwate is unremarkable.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Pediatria da Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil. Electronic address: vianamb@gmail.com.

No MeSH data available.


Related in: MedlinePlus

Genotyping study of the mutation that results in hemoglobin M Iwate. (A) Electrophoregram corresponding to the sequencing of exon 2 of the alpha2-globin gene of the proband, showing the heterozygous mutation CAC>TAC at codon 87 (His>Tyr); (B) Electrophoresis of DNA in 1% agarose gel stained with ethidium bromide showing PCR product after restriction digestion with the enzyme RsaI. The largest fragment with 1803 bp does not contain any restriction site for RsaI and corresponds to the amplification of HBA2 without the M Iwate mutation and with the C-polymorphism at site rs2541669 (NG_000006.1:g.33004C>T); the fragments with 1544 pb and 269 bp result from the rs2541669 T-polymorphism and HBA2 without M Iwate mutation; fragments with 1150 and 394 result from the action of RsaI on the new restriction site created by the M Iwate mutation. Specific amplification of HBA2 was performed with alpha2/3.7-F and alpha2-R primers.3MM = 250 bp molecular marker; bp = base pairs.
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fig0015: Genotyping study of the mutation that results in hemoglobin M Iwate. (A) Electrophoregram corresponding to the sequencing of exon 2 of the alpha2-globin gene of the proband, showing the heterozygous mutation CAC>TAC at codon 87 (His>Tyr); (B) Electrophoresis of DNA in 1% agarose gel stained with ethidium bromide showing PCR product after restriction digestion with the enzyme RsaI. The largest fragment with 1803 bp does not contain any restriction site for RsaI and corresponds to the amplification of HBA2 without the M Iwate mutation and with the C-polymorphism at site rs2541669 (NG_000006.1:g.33004C>T); the fragments with 1544 pb and 269 bp result from the rs2541669 T-polymorphism and HBA2 without M Iwate mutation; fragments with 1150 and 394 result from the action of RsaI on the new restriction site created by the M Iwate mutation. Specific amplification of HBA2 was performed with alpha2/3.7-F and alpha2-R primers.3MM = 250 bp molecular marker; bp = base pairs.

Mentions: Figure 3A shows the electropherogram of the boy's HBA2 gene sequencing. PCR-RFLP with RsaI of all members of the family is depicted in Figure 3B. The mutation underlying heterozygous Hb M Iwate [alpha2 87(F8) His>Tyr HBA2:c.262C>T] was detected through sequencing and PCR- RFLP only in the proband. Homozygous thymidine (T/T) nucleotide polymorphism rs2541669 (NG_000006.1:g.33004 C>T) was detected in the proband and his father, and in heterozygous state (C/T) in his mother and sister (Figure 3B). The seven most common α-thalassemia deletion mutations4 were absent in all family members.


De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth.

Viana MB, Belisário AR - Rev Bras Hematol Hemoter (2014)

Genotyping study of the mutation that results in hemoglobin M Iwate. (A) Electrophoregram corresponding to the sequencing of exon 2 of the alpha2-globin gene of the proband, showing the heterozygous mutation CAC>TAC at codon 87 (His>Tyr); (B) Electrophoresis of DNA in 1% agarose gel stained with ethidium bromide showing PCR product after restriction digestion with the enzyme RsaI. The largest fragment with 1803 bp does not contain any restriction site for RsaI and corresponds to the amplification of HBA2 without the M Iwate mutation and with the C-polymorphism at site rs2541669 (NG_000006.1:g.33004C>T); the fragments with 1544 pb and 269 bp result from the rs2541669 T-polymorphism and HBA2 without M Iwate mutation; fragments with 1150 and 394 result from the action of RsaI on the new restriction site created by the M Iwate mutation. Specific amplification of HBA2 was performed with alpha2/3.7-F and alpha2-R primers.3MM = 250 bp molecular marker; bp = base pairs.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4109735&req=5

fig0015: Genotyping study of the mutation that results in hemoglobin M Iwate. (A) Electrophoregram corresponding to the sequencing of exon 2 of the alpha2-globin gene of the proband, showing the heterozygous mutation CAC>TAC at codon 87 (His>Tyr); (B) Electrophoresis of DNA in 1% agarose gel stained with ethidium bromide showing PCR product after restriction digestion with the enzyme RsaI. The largest fragment with 1803 bp does not contain any restriction site for RsaI and corresponds to the amplification of HBA2 without the M Iwate mutation and with the C-polymorphism at site rs2541669 (NG_000006.1:g.33004C>T); the fragments with 1544 pb and 269 bp result from the rs2541669 T-polymorphism and HBA2 without M Iwate mutation; fragments with 1150 and 394 result from the action of RsaI on the new restriction site created by the M Iwate mutation. Specific amplification of HBA2 was performed with alpha2/3.7-F and alpha2-R primers.3MM = 250 bp molecular marker; bp = base pairs.
Mentions: Figure 3A shows the electropherogram of the boy's HBA2 gene sequencing. PCR-RFLP with RsaI of all members of the family is depicted in Figure 3B. The mutation underlying heterozygous Hb M Iwate [alpha2 87(F8) His>Tyr HBA2:c.262C>T] was detected through sequencing and PCR- RFLP only in the proband. Homozygous thymidine (T/T) nucleotide polymorphism rs2541669 (NG_000006.1:g.33004 C>T) was detected in the proband and his father, and in heterozygous state (C/T) in his mother and sister (Figure 3B). The seven most common α-thalassemia deletion mutations4 were absent in all family members.

Bottom Line: The newborn child was treated with methylene blue in an intensive care unit fearing that he had a defective reductase system and exposure to oxidant drugs or toxins.Newborn hemoglobin screening with high performance liquid chromatography was abnormal on the 10th and 45th days but no conclusive diagnosis was reached.Except for cosmetic consequences, the clinical course of patients with hemoglobin M Iwate is unremarkable.

View Article: PubMed Central - PubMed

Affiliation: Departamento de Pediatria da Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil. Electronic address: vianamb@gmail.com.

No MeSH data available.


Related in: MedlinePlus