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Clinical, hematological and genetic data of a cohort of children with hemoglobin SD

View Article: PubMed Central - PubMed

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 (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 βS 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 βS 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.

No MeSH data available.


Mean baseline hematological data of 11 children with Hb S/D-Punjab and eight children with Hb S-Korle Bu. (A) Total hemoglobin concentration (g/dL); (B) reticulocytes (%); (C) fetal hemoglobin (%); (D) leukocyte count (×109/L). The unpaired t test was used to compare mean values between Hb S/D-Punjab and Hb S-Korle Bu groups.
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fig0010: Mean baseline hematological data of 11 children with Hb S/D-Punjab and eight children with Hb S-Korle Bu. (A) Total hemoglobin concentration (g/dL); (B) reticulocytes (%); (C) fetal hemoglobin (%); (D) leukocyte count (×109/L). The unpaired t test was used to compare mean values between Hb S/D-Punjab and Hb S-Korle Bu groups.

Mentions: All children of the Hb S/D-Punjab group were found to have baseline Hb levels below 10 g/dL (average: 8.0 g/dL) and the reticulocyte counts varied. The baseline values of the hematologic tests and genetic results for each child are reported in Table 1. Figure 2 compares the main results found in both groups. The Hb S/D-Punjab group was found to have lower average baseline Hb values and higher reticulocyte counts than the Hb S-Korle Bu group (p-value <0.001 for both comparisons). Relative Hb F concentrations were higher in the children of the Hb S/D-Punjab group (p-value = 0.001). Total leukocyte and platelet counts were also higher in the Hb S/D-Punjab group (p-value = 0.003 and p-value = 0.06, respectively). Mean ratios between Hb S and Hb D concentrations were 1.06 and 1.14 in the Hb S/D-Punjab and Hb S-Korle Bu groups, respectively (p-value = 0.61).


Clinical, hematological and genetic data of a cohort of children with hemoglobin SD
Mean baseline hematological data of 11 children with Hb S/D-Punjab and eight children with Hb S-Korle Bu. (A) Total hemoglobin concentration (g/dL); (B) reticulocytes (%); (C) fetal hemoglobin (%); (D) leukocyte count (×109/L). The unpaired t test was used to compare mean values between Hb S/D-Punjab and Hb S-Korle Bu groups.
© Copyright Policy - CC BY-NC-ND
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4997897&req=5

fig0010: Mean baseline hematological data of 11 children with Hb S/D-Punjab and eight children with Hb S-Korle Bu. (A) Total hemoglobin concentration (g/dL); (B) reticulocytes (%); (C) fetal hemoglobin (%); (D) leukocyte count (×109/L). The unpaired t test was used to compare mean values between Hb S/D-Punjab and Hb S-Korle Bu groups.
Mentions: All children of the Hb S/D-Punjab group were found to have baseline Hb levels below 10 g/dL (average: 8.0 g/dL) and the reticulocyte counts varied. The baseline values of the hematologic tests and genetic results for each child are reported in Table 1. Figure 2 compares the main results found in both groups. The Hb S/D-Punjab group was found to have lower average baseline Hb values and higher reticulocyte counts than the Hb S-Korle Bu group (p-value <0.001 for both comparisons). Relative Hb F concentrations were higher in the children of the Hb S/D-Punjab group (p-value = 0.001). Total leukocyte and platelet counts were also higher in the Hb S/D-Punjab group (p-value = 0.003 and p-value = 0.06, respectively). Mean ratios between Hb S and Hb D concentrations were 1.06 and 1.14 in the Hb S/D-Punjab and Hb S-Korle Bu groups, respectively (p-value = 0.61).

View Article: PubMed Central - PubMed

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 (1999&ndash;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 &beta;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 12.3&nbsp;g/dL (p-value &lt;0.001), leukocyte count 13.9&nbsp;&times;&nbsp;109/L and 10.5&nbsp;&times;&nbsp;109/L (p-value&nbsp;=&nbsp;0.003), reticulocytes 7.5% and 1.0% (p-value &lt;0.001), hemoglobin F concentration 16.1% and 6.9% (p-value&nbsp;=&nbsp;0.001) and oxygen saturation 91.9% and 97% (p-value&nbsp;=&nbsp;0.002), respectively. Only hemoglobin S/D-Punjab children had acute pain crises and needed blood transfusions or hydroxyurea. Those with the Benin &beta;S 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.

No MeSH data available.