title: Significance of fetal hemoglobin values in detection of heterozygotes in fanconi anemia: reevaluation of fetal hemoglobin values by a sensitive method.
abstract: Fanconi anemia (FA) is a genetically very heterogeneous disease making routine detection of carriers quite difficult by molecular analysis. Finding alternative method has vital importance especially in populations where prevalence of the disease is quite high because of consanguineous marriages. The aim of this study was to find a considerably reliable parameter to detect FA carriers by methods other than molecular analysis. The subjects of this study were 66 parents of children with FA and 40 age and sex compatible individuals from the normal healthy population. An index family with a known mutation was also included as an evidence for verification of the results. The mean fetal hemoglobin (HbF) values (0.81%+/-0.72%) of FA heterozygotes studied by high-performance liquid chromatography was significantly higher than that (0.37%+/-0.32%) of the control group (P<0.001). Additionally, there was a positive correlation between the HbF value of the children (mean: 4.50+/-1.59) and the parents (mean: 0.81+/-0.72) (r: 0.698, P=0.01). No significant difference was detected between the hemoglobin, hematocrit, red blood cell count, mean corpuscular volume, red cell distribution width, white blood cell count, absolute neutrophil count, and platelet counts of the study and control groups. The results of this study suggest that the HbF values may be used as a marker to predict carriers in the family members of a child with FA when definitive diagnosis by molecular analysis is not possible.
authors.affiliation: Pediatric Hematology Unit, Ihsan Dogramaci Children's Hospital, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Turkey. fgumruk@hacettepe.edu.tr
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
authors.forename: Betul
authors.initials: B
authors.lastname: Tavil
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Selma
authors.initials: S
authors.lastname: Unal
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D000328:Adult; D001772:Blood Cell Count; D016022:Case-Control Studies; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005199:Fanconi Anemia / Q000175:diagnosis*; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis*; D006400:Hematocrit; D006579:Heterozygote; D006801:Humans; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D005319:Fetal Hemoglobin