Artigo
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
Registro en:
Revista Brasileira De Hematologia E Hemoterapia, v. 37, n. 2, p. 120-126, 2015.
1516-8484
10.1016/j.bjhh.2015.02.007
S1516-84842015000200120
S1516-84842015000200120.pdf
3279428066176719
25818823
PMC4382585
0000-0002-4603-9467
Autor
Torres, Lidiane de Souza [UNESP]
Okumura, Jéssika Viviani [UNESP]
Silva, Danilo Grünig Humberto da [UNESP]
Bonini-Domingos, Claudia Regina [UNESP]
Resumen
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. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: lidiane.unesp@gmail.com. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil. Electronic address: lidiane.unesp@gmail.com. Universidade Estadual Paulista (UNESP), São José do Rio Preto, SP, Brazil.