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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

High performance liquid chromatography chromatogram (beta thalassemia short program) when the child was 45 days old. The original line of the chromatogram was traced over to make it clearer 4 years after printing on a thermo-sensitive paper. The relative concentration of Hb A is already higher than that of Hb F, as expected. The estimated relative concentration of Hb M Iwate (area under the peak at the retention time of 4.74 min) is 8.8% [image kindly sent by the Blood Center of Ribeirão Preto, São Paulo, Brazil].
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fig0005: High performance liquid chromatography chromatogram (beta thalassemia short program) when the child was 45 days old. The original line of the chromatogram was traced over to make it clearer 4 years after printing on a thermo-sensitive paper. The relative concentration of Hb A is already higher than that of Hb F, as expected. The estimated relative concentration of Hb M Iwate (area under the peak at the retention time of 4.74 min) is 8.8% [image kindly sent by the Blood Center of Ribeirão Preto, São Paulo, Brazil].

Mentions: Activity of NADH cytochrome b5 reductase assay was not available anywhere in Brazil and so was not applied. HPLC chromatogram (beta thalassemia short program) when the child was 45 days old is depicted in Figure 1. The relative concentrations of the peaks were: Hb F 28.4% at retention time of 1.16 min, Hb A0 51.6% at retention time of 2.55 min, Hb A2 6.5% at retention time of 3.71 min, and unknown Hb 8.8% at retention time of 4.74 min. Although very faint to be graphically reproduced because of the time elapsed since the sample was drawn (ten days old) and the type of paper used for printing in the newborn screening, the HPLC (sickle cell short program) was similar to that when he was 45 days old. However, areas under the curve for the observed peaks were somewhat different portraying differences in gamma chain production between ten and 45 days of life. The unknown Hb concentration was 2.6% at retention time of 1.46 min and those for Hb F and Hb A0 were 31.1% (retention time of 0.62 min) and 29.2% (retention time of 0.89 min), respectively. An unknown Hb between Hb F and Hb A0 amounted to 12.3% and might represent the dimer alphaX/gammaA (abnormal Hb F due to a mutated alpha chain).


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)

High performance liquid chromatography chromatogram (beta thalassemia short program) when the child was 45 days old. The original line of the chromatogram was traced over to make it clearer 4 years after printing on a thermo-sensitive paper. The relative concentration of Hb A is already higher than that of Hb F, as expected. The estimated relative concentration of Hb M Iwate (area under the peak at the retention time of 4.74 min) is 8.8% [image kindly sent by the Blood Center of Ribeirão Preto, São Paulo, Brazil].
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

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

fig0005: High performance liquid chromatography chromatogram (beta thalassemia short program) when the child was 45 days old. The original line of the chromatogram was traced over to make it clearer 4 years after printing on a thermo-sensitive paper. The relative concentration of Hb A is already higher than that of Hb F, as expected. The estimated relative concentration of Hb M Iwate (area under the peak at the retention time of 4.74 min) is 8.8% [image kindly sent by the Blood Center of Ribeirão Preto, São Paulo, Brazil].
Mentions: Activity of NADH cytochrome b5 reductase assay was not available anywhere in Brazil and so was not applied. HPLC chromatogram (beta thalassemia short program) when the child was 45 days old is depicted in Figure 1. The relative concentrations of the peaks were: Hb F 28.4% at retention time of 1.16 min, Hb A0 51.6% at retention time of 2.55 min, Hb A2 6.5% at retention time of 3.71 min, and unknown Hb 8.8% at retention time of 4.74 min. Although very faint to be graphically reproduced because of the time elapsed since the sample was drawn (ten days old) and the type of paper used for printing in the newborn screening, the HPLC (sickle cell short program) was similar to that when he was 45 days old. However, areas under the curve for the observed peaks were somewhat different portraying differences in gamma chain production between ten and 45 days of life. The unknown Hb concentration was 2.6% at retention time of 1.46 min and those for Hb F and Hb A0 were 31.1% (retention time of 0.62 min) and 29.2% (retention time of 0.89 min), respectively. An unknown Hb between Hb F and Hb A0 amounted to 12.3% and might represent the dimer alphaX/gammaA (abnormal Hb F due to a mutated alpha chain).

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