2014
DOI: 10.1016/j.bjhh.2014.06.002
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Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

Abstract: ObjectivesTo analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia.MethodThe frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restri… Show more

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Cited by 10 publications
(8 citation statements)
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References 32 publications
(68 reference statements)
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“…The observed hematological profile of patients with α‐thal in this study has been previously described . The increased Hb and red blood cell count are due to the decrease in the intracellular concentration of HbS, and number of dense red blood cells .…”
Section: Discussionsupporting
confidence: 70%
See 1 more Smart Citation
“…The observed hematological profile of patients with α‐thal in this study has been previously described . The increased Hb and red blood cell count are due to the decrease in the intracellular concentration of HbS, and number of dense red blood cells .…”
Section: Discussionsupporting
confidence: 70%
“…The prevalence of alpha thalassemia among patients in this study (41%) is comparable to between 37% and 46% earlier described among mixed populations of SCA patients from France and West Africa . This is however higher than the 13%‐28% described among patients in the Americas . These observations may be due to regional differences.…”
Section: Discussionsupporting
confidence: 64%
“…Finally, few studies have compared biochemical and hematological parameters across SCD individuals of different β-globin and α-thalassemia molecular backgrounds. Here we describe the β-globin and α-thalassemia genetic profile of a population sample of individuals affected by sickle cell and hemoglobin SC disease from the Brazilian Amazon, presented and discussed in the context of a comprehensive hematological and biochemical profile [20][21][22][23].…”
Section: Introductionmentioning
confidence: 99%
“…In this issue of the Revista Brasileira de Hematologia e Hemoterapia , Camilo-Araújo present an analysis of the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. 41 …”
mentioning
confidence: 99%