Clinical, hematological and genetic data of a cohort of children with hemoglobin SD
Rev. bras. hematol. hemoter
; 38(3): 240-246, 2016. gráfico, tabela
Article
in English
| LILACS
| ID: biblio-837015
Responsible library:
BR408.1
Localization: BR408.1
ABSTRACT
Introduction 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 (19992012) 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 ßS 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 12.3 g/dL (p-value <0.001), leukocyte count 13.9 × 109/L and 10.5 × 109/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 ßS haplotype had higher total hemoglobin and hemoglobin F concentrations compared to the CAR haplotype. Transcranial Doppler was normal in all children. Conclusion 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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Haplotypes
/
Hemoglobin, Sickle
/
Anemia, Sickle Cell
Type of study:
Prognostic study
/
Risk factors
Limits:
Child
/
Female
/
Humans
/
Male
Language:
English
Journal:
Rev. bras. hematol. hemoter
Journal subject:
Hematology
Year:
2016
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Fundação Hemominas/BR
/
Universidade Federal de Minas Gerais/BR