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Torres Lde S, Okumura JV, Silva DG, et al. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2):120-6doi: 10.1016/j.bjhh.2015.02.007.
Torres, L. d. e. . S., Okumura, J. V., Silva, D. G., & Bonini-Domingos, C. R. (2015). Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Revista brasileira de hematologia e hemoterapia, 37(2), 120-6. https://doi.org/10.1016/j.bjhh.2015.02.007
Torres, Lidiane de Souza, et al. "Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis." Revista brasileira de hematologia e hemoterapia vol. 37,2 (2015): 120-6. doi: https://doi.org/10.1016/j.bjhh.2015.02.007
Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015 Mar-Apr;37(2):120-6. doi: 10.1016/j.bjhh.2015.02.007. Epub 2015 Feb 23. PMID: 25818823; PMCID: PMC4382585.
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Rev Bras Hematol Hemoter. 2015 Mar-Apr;37(2):120-6. doi: 10.1016/j.bjhh.2015.02.007. Epub 2015 Feb 23.

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

Revista brasileira de hematologia e hemoterapia

Lidiane de Souza Torres, Jéssika Viviani Okumura, Danilo Grünig Humberto da Silva, Claudia Regina Bonini-Domingos

Affiliations

  1. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: [email protected].
  2. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil.

PMID: 25818823 PMCID: PMC4382585 DOI: 10.1016/j.bjhh.2015.02.007

Abstract

This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, Northwestern Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing no clinical or hematological alterations, or in homozygosis, the rarest form of inheritance, a condition that is commonly not related to clinical symptomatology. Moreover, this variant can exist in association with other hemoglobinopathies, such as thalassemias; the most noticeable clinical alterations occur when hemoglobin D-Punjab is associated to hemoglobin S. The clinical manifestations of this association can be similar to homozygosis for hemoglobin S. 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. In Brazil, for example, hemoglobin D-Punjab is the third most common hemoglobin variant. 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.

Copyright © 2015 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Editora Ltda. All rights reserved.

Keywords: Diagnosis; Haplotypes; Hemoglobinopathies; Hemoglobins

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