title: Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.
abstract: Sickle cell disease is a growing global health concern because infants born with the disorder in developing countries are now surviving longer with little access to diagnostic and management options. In Haiti, the current state of sickle cell disease/trait in the population is unclear. To inform future screening efforts in Haiti, we assayed sickle hemoglobin mutations using traditional hemoglobin solubility tests (HST) and add-on techniques, which incorporated spectrophotometry and insoluble hemoglobin separation. We also generated genotype data as a metric for HST performance. We found 19 of 202 individuals screened with HST were positive for sickle hemoglobin, five of whom did not carry the HbS allele. We show that spectrophotometry and insoluble hemoglobin separation add-on techniques could resolve false positives associated with the traditional HST approach, with some limitations. We also discuss the incorporation of insoluble hemoglobin separation observation with HST in suboptimal screening settings like Haiti.
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti tamarec@ufl.edu.
authors: Tamar E
authors: TE
authors: Carter
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Michael
authors: M
authors: von Fricken
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Jean R
authors: JR
authors: Romain
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Gladys
authors: G
authors: Memnon
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Yves
authors: Y
authors: St Victor
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Laura
authors: L
authors: Schick
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Bernard A
authors: BA
authors: Okech
authors: Genetics and Genomics Program, University of Florida, Gainesville, Florida; Department of Anthropology, University of Florida, Gainesville, Florida; Genetics Institute, University of Florida, Gainesville, Florida; Emerging Pathogens Institute, University of Florida, Gainesville, Florida; Department of Environmental and Global Health, University of Florida, Gainesville, Florida; Hospital Saint Croix, Leogane, Haiti; Blanchard Clinic, Terre Noire, Haiti; Community Coalition for Haiti, Jacmel, Haiti.
authors: Connie J
authors: CJ
authors: Mulligan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005787:Gene Frequency; D005838:Genotype; D060005:Genotyping Techniques; D006451:Hemoglobin, Sickle / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D006801:Humans; D007223:Infant; D008875:Middle Aged; D011237:Predictive Value of Tests; D012995:Solubility; D013053:Spectrophotometry
chemical_list: D006451:Hemoglobin, Sickle