Clinico-hematological Characterization of Pakistani Fanconi anemia patients

Abstract

Objective: This study was designed to characterize the clinical and hematological aspects of Pakistani Fanconi anemia (FA) patients.

Methodology: The study was conducted in Armed forces institute of Pathology Rawalpindi and University of Health Sciences Lahore from 2012 to 2016. Seventy unrelated   patients with bone marrow failure were included in this study. Forty FA patients   diagnosed by chromosomal breakage analysis were assessed for their demographic, clinical and laboratory parameters. SPSS version 20 was used for statistical analysis.

Results:  This study showed mean age of seeking medical aid as 11.21 ±4.22 years. Prenatal consanguinity was 65% and 16 out of 40 patients had siblings affected with FA. All of them had history of repeated infections. There was pleomorphic presentation and varying degree of pancytopenia. Short stature, microcephaly, microphthalmia and café ul lait spots were the common findings.

Conclusion: Fanconi anemia is genetically a heterogenous disease with wide variability of phenotypic presentation. Knowledge of pleomorphic clinical presentation may support health professionals in early diagnosis, evaluation of prognosis, monitoring and genetic counselling of patients and families with Fanconi anemia.