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Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.

Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR - Rev Bras Hematol Hemoter (2015)

Bottom Line: Although hemoglobin D-Punjab is a common variant globally with clinical importance especially in cases of double heterozygosis, hemoglobin S/D-Punjab is still understudied.Thus, this paper summarizes information about the origin, geographic distribution, characterization and occurrence of hemoglobin D-Punjab haplotypes to try to improve our knowledge of this variant.Moreover, a list of the main techniques used in its identification is provided emphasizing the importance of complementary molecular analysis for accurate diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: lidiane.unesp@gmail.com.

No MeSH data available.


Related in: MedlinePlus

Chromatographic profile of a heterozygous trait for Hb D-Punjab (B and C) and a double heterozygous Hb S/D-Los Angeles A and D). (A and B) The VARIANT I system chromatogram with heterozygous beta-thalassemia analysis kit. The arrow indicates the pike corresponding to Hb D-Los Angeles with average retention time of 4.1–4.3 min. It is possible to note decreases in Hb A2 values, a characteristic of samples with this hemoglobin variant. (C and D) The ultra2 Resolution system chromatogram with Genesys analysis kit. The arrow indicates the Hb D-Punjab spike, with retention time between 0.92 and 0.96 min related to Hb S.
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fig0020: Chromatographic profile of a heterozygous trait for Hb D-Punjab (B and C) and a double heterozygous Hb S/D-Los Angeles A and D). (A and B) The VARIANT I system chromatogram with heterozygous beta-thalassemia analysis kit. The arrow indicates the pike corresponding to Hb D-Los Angeles with average retention time of 4.1–4.3 min. It is possible to note decreases in Hb A2 values, a characteristic of samples with this hemoglobin variant. (C and D) The ultra2 Resolution system chromatogram with Genesys analysis kit. The arrow indicates the Hb D-Punjab spike, with retention time between 0.92 and 0.96 min related to Hb S.

Mentions: High performance liquid chromatography (HPLC) methods have been developed for hemoglobin fractionation with high sensitivity and specificity. This technique is an integrated method based on ion-exchange to separate and identify the relative percentage of specific hemoglobins in whole blood samples (Figure 4). Another method employed to detect hemoglobin fractions is capillary electrophoresis (CE) based on the principle of electrokinetic separation. Despite the excellent resolution and reproducibility, this technique is only now arriving in some countries, including Brazil.


Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.

Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR - Rev Bras Hematol Hemoter (2015)

Chromatographic profile of a heterozygous trait for Hb D-Punjab (B and C) and a double heterozygous Hb S/D-Los Angeles A and D). (A and B) The VARIANT I system chromatogram with heterozygous beta-thalassemia analysis kit. The arrow indicates the pike corresponding to Hb D-Los Angeles with average retention time of 4.1–4.3 min. It is possible to note decreases in Hb A2 values, a characteristic of samples with this hemoglobin variant. (C and D) The ultra2 Resolution system chromatogram with Genesys analysis kit. The arrow indicates the Hb D-Punjab spike, with retention time between 0.92 and 0.96 min related to Hb S.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4382585&req=5

fig0020: Chromatographic profile of a heterozygous trait for Hb D-Punjab (B and C) and a double heterozygous Hb S/D-Los Angeles A and D). (A and B) The VARIANT I system chromatogram with heterozygous beta-thalassemia analysis kit. The arrow indicates the pike corresponding to Hb D-Los Angeles with average retention time of 4.1–4.3 min. It is possible to note decreases in Hb A2 values, a characteristic of samples with this hemoglobin variant. (C and D) The ultra2 Resolution system chromatogram with Genesys analysis kit. The arrow indicates the Hb D-Punjab spike, with retention time between 0.92 and 0.96 min related to Hb S.
Mentions: High performance liquid chromatography (HPLC) methods have been developed for hemoglobin fractionation with high sensitivity and specificity. This technique is an integrated method based on ion-exchange to separate and identify the relative percentage of specific hemoglobins in whole blood samples (Figure 4). Another method employed to detect hemoglobin fractions is capillary electrophoresis (CE) based on the principle of electrokinetic separation. Despite the excellent resolution and reproducibility, this technique is only now arriving in some countries, including Brazil.

Bottom Line: Although hemoglobin D-Punjab is a common variant globally with clinical importance especially in cases of double heterozygosis, hemoglobin S/D-Punjab is still understudied.Thus, this paper summarizes information about the origin, geographic distribution, characterization and occurrence of hemoglobin D-Punjab haplotypes to try to improve our knowledge of this variant.Moreover, a list of the main techniques used in its identification is provided emphasizing the importance of complementary molecular analysis for accurate diagnosis.

View Article: PubMed Central - PubMed

Affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: lidiane.unesp@gmail.com.

No MeSH data available.


Related in: MedlinePlus