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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

Agarose gel visualization of fragments generated by the PCR-RFLP technique for screening of β121 Glu→Gln (GAA→CAA) mutation. Normal alleles generate two fragments and mutant alleles maintain the 564 bp fragment, indicated by the arrows. N: absent mutation; HET: heterozygous for Hb D-Los Angeles; mm: molecular marker of 100 bp. Restriction enzyme: EcoRI (G↓AATTC).
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fig0025: Agarose gel visualization of fragments generated by the PCR-RFLP technique for screening of β121 Glu→Gln (GAA→CAA) mutation. Normal alleles generate two fragments and mutant alleles maintain the 564 bp fragment, indicated by the arrows. N: absent mutation; HET: heterozygous for Hb D-Los Angeles; mm: molecular marker of 100 bp. Restriction enzyme: EcoRI (G↓AATTC).

Mentions: Although all these tests aim to diagnose Hb D-Punjab, they are not considered conclusive because of the large number of hemoglobin variants that are similar to each other. It is always recommended to perform molecular analysis for genotype confirmation with PCR-RFLP as an alternative42 (Figure 5).


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

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

Agarose gel visualization of fragments generated by the PCR-RFLP technique for screening of β121 Glu→Gln (GAA→CAA) mutation. Normal alleles generate two fragments and mutant alleles maintain the 564 bp fragment, indicated by the arrows. N: absent mutation; HET: heterozygous for Hb D-Los Angeles; mm: molecular marker of 100 bp. Restriction enzyme: EcoRI (G↓AATTC).
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

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

fig0025: Agarose gel visualization of fragments generated by the PCR-RFLP technique for screening of β121 Glu→Gln (GAA→CAA) mutation. Normal alleles generate two fragments and mutant alleles maintain the 564 bp fragment, indicated by the arrows. N: absent mutation; HET: heterozygous for Hb D-Los Angeles; mm: molecular marker of 100 bp. Restriction enzyme: EcoRI (G↓AATTC).
Mentions: Although all these tests aim to diagnose Hb D-Punjab, they are not considered conclusive because of the large number of hemoglobin variants that are similar to each other. It is always recommended to perform molecular analysis for genotype confirmation with PCR-RFLP as an alternative42 (Figure 5).

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