Significance of fetal hemoglobin values in detection of heterozygotes in fanconi anemia: reevaluation of fetal hemoglobin values by a sensitive method

Journal of Pediatric Hematology/oncology
F GümrükAytemiz Gurgey

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, an...Continue Reading

References

Jun 29, 1976·Human Genetics·T M SchroederF Vogel
Aug 14, 1976·British Medical Journal·R D Hill
Jul 17, 1975·The New England Journal of Medicine·R Schrek
Jun 1, 1990·Human Genetics·A KutlarT H Huisman
Nov 1, 1990·Acta paediatrica Scandinavica·M Petridou, A J Barrett
Jul 15, 1988·Cancer Genetics and Cytogenetics·J Rosendorff, R Bernstein
Mar 27, 1999·European Journal of Human Genetics : EJHG·M Wijker CG Mathew
Jan 1, 1997·Genetic Testing·A D Auerbach
Feb 1, 2003·BMJ : British Medical Journal·John Holden, Seamus O'Donnell

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