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Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
Torres, Lidiane de Souza; Okumura, Jéssika Viviani; Silva, Danilo Grünig Humberto da; Bonini-Domingos, Claudia Regina.
Afiliação
  • Torres, Lidiane de Souza; Universidade Estadual Paulista. São José do Rio Preto. BR
  • Okumura, Jéssika Viviani; Universidade Estadual Paulista. São José do Rio Preto. BR
  • Silva, Danilo Grünig Humberto da; Universidade Estadual Paulista. São José do Rio Preto. BR
  • Bonini-Domingos, Claudia Regina; Universidade Estadual Paulista. São José do Rio Preto. BR
Rev. bras. hematol. hemoter ; 37(2): 120-126, Mar-Apr/2015. tab, graf
Article em En | LILACS | ID: lil-746100
Biblioteca responsável: BR408.1
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, North-western 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.
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Texto completo: 1 Base de dados: LILACS Assunto principal: Haplótipos / Hemoglobinas / Hemoglobinopatias Idioma: En Ano de publicação: 2015 Tipo de documento: Article / Project document

Texto completo: 1 Base de dados: LILACS Assunto principal: Haplótipos / Hemoglobinas / Hemoglobinopatias Idioma: En Ano de publicação: 2015 Tipo de documento: Article / Project document