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Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
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Hemoglobin variants identified in the Uganda Sickle Surveillance Study
Beverly A Schaefer1, Charles Kiyaga2, Thad A Howard1
1Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
Blood Advances
|January 4, 2018
Summary
Uganda
Area of Science:
- Hematology
- Genetics
- Public Health
Background:
- Sickle cell trait and disease are prevalent in Uganda.
- Isoelectric focusing electrophoresis revealed numerous hemoglobin variants.
- Geographic variability in Hb variant prevalence was observed.
Purpose of the Study:
- To determine the prevalence of sickle cell trait and disease in Uganda.
- To identify and characterize novel hemoglobin variants.
- To propose algorithms for neonatal hemoglobinopathy screening.
Main Methods:
- Analysis of dried blood spots from nearly 100,000 infants and children.
- Isoelectric focusing electrophoresis (IEF) to detect Hb variants.
- DNA-based investigation of predominant IEF patterns.
Main Results:
- Overall prevalence: 13.3% sickle cell trait, 0.7% sickle cell disease.
- 0.5% prevalence of various Hb variants, highest in northwestern regions.
- Identified 2 alpha-globin, 1 beta-globin, and 2 fusion globin variants.
- Identified compound heterozygotes including Hb S/O-Arab and HbS/Kenya.
Conclusions:
- Regional differences in Hb variants likely reflect tribal ancestries and migration.
- Characterization of Hb variants is crucial for neonatal screening programs in sub-Saharan Africa.
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