title: Clinical, hematological and genetic data of a cohort of children with hemoglobin SD.
abstract: BACKGROUND
  The hemoglobin FSD is very uncommon in newborn screening programs for sickle cell disease. In the program of Minas Gerais, Brazil, the clinical course of children with hemoglobin SD was observed to be heterogeneous. The objective of this study was to estimate the incidence (1999-2012) and to describe the natural history of a cohort of newborns with hemoglobin SD.
  
  
  METHODS
  Isoelectric focusing was the primary method used in newborn screening. Polymerase chain reaction-restriction fragment length polymorphism and gene sequencing were used to identify mutant alleles and for haplotyping. Gap-polymerase chain reaction was used to detect alpha-thalassemia.
  
  
  RESULTS
  Eleven cases of hemoglobin S/D-Punjab and eight of Hb S-Korle Bu were detected. Other variants with hemoglobin D mobility were not identified. All hemoglobin D-Punjab and hemoglobin Korle Bu alleles were associated with haplotype I. Among the children with hemoglobin S/D-Punjab, there were four with the β(S) CAR haplotype, six with the Benin haplotype, and one atypical. Results of laboratory tests for hemoglobin S/D-Punjab and hemoglobin S-Korle Bu were: hemoglobin 8.0 and 12.3g/dL (p-value <0.001), leukocyte count 13.9×10(9)/L and 10.5×10(9)/L (p-value=0.003), reticulocytes 7.5% and 1.0% (p-value <0.001), hemoglobin F concentration 16.1% and 6.9% (p-value=0.001) and oxygen saturation 91.9% and 97% (p-value=0.002), respectively. Only hemoglobin S/D-Punjab children had acute pain crises and needed blood transfusions or hydroxyurea. Those with the Benin β(S) haplotype had higher total hemoglobin and hemoglobin F concentrations compared to the CAR haplotype. Transcranial Doppler was normal in all children.
  
  
  CONCLUSIONS
  The clinical course and blood cell counts of children with hemoglobin S/D-Punjab were very similar to those of hemoglobin SS children. In contrast, children with hemoglobin S-Korle Bu had clinical course and blood cell counts like children with the sickle cell trait.
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil. Electronic address: paulinhovalrezende@gmail.com.
authors: Paulo do Val
authors: Pdo V
authors: Rezende
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil.
authors: Kenia da Silva
authors: Kda S
authors: Costa
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil.
authors: Jose Carlos
authors: JC
authors: Domingues Junior
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil.
authors: Paula Barezani
authors: PB
authors: Silveira
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil.
authors: André Rolim
authors: AR
authors: Belisário
authors: Fundação Hemominas, Belo Horizonte, MG, Brazil.
authors: Celia Maria
authors: CM
authors: Silva
authors: Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.
authors: Marcos Borato
authors: MB
authors: Viana
keywords: Children; Haplotypes; Hemoglobin S-Korle Bu; Hemoglobin S/D-Punjab; Sickle cell disease