Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
Rev. bras. hematol. hemoter
; 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
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Haplótipos
/
Hemoglobinas
/
Hemoglobinopatias
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2015
Tipo de documento:
Article
/
Project document
País de afiliação:
Brasil
País de publicação:
Brasil