title: Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.
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.
authors.affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: lidiane.unesp@gmail.com.
authors.forename: Lidiane de Souza
authors.initials: Lde S
authors.lastname: Torres
authors.affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil.
authors.forename: Jéssika Viviani
authors.initials: JV
authors.lastname: Okumura
authors.affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil.
authors.forename: Danilo Grünig Humberto da
authors.initials: DG
authors.lastname: Silva
authors.affiliation: Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil.
authors.forename: Claudia Regina
authors.initials: CR
authors.lastname: Bonini-Domingos
keywords: Diagnosis; Haplotypes; Hemoglobinopathies; Hemoglobins
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