Fanconi anaemia: A perspective on phenotype, investigations and outcomes from central South Africa

Abstract

Background. Fanconi anaemia (FA) is an inherited form of aplastic anaemia. 

Objective. To document the demographics, presenting features, clinical signs and laboratory results of a cohort of South African FA patients. 

Methods. This was a retrospective, file-based study of patients (N=144) with a presumed or proven diagnosis of FA over 43 years. Results of laboratory investigations, including diepoxybutane (DEB) chromosome breakage and molecular studies, were analysed. Patients’ physical features, presenting symptoms, outcomes and, where indicated, cause of death were evaluated. 

Results. More than 70% of the patients were of non-Caucasian decent (n=104). The median age at diagnosis was 82 months. The median survival post diagnosis was 30 months. Among the Caucasian patients, mean post-diagnosis survival was 98 months, opposed to 19 months in the non-Caucasian group. Approximately 60% of cases had a fatal outcome; >20% of cases (mostly non-Caucasian) were lost to follow-up. There was an equal male : female ratio. The presenting complaints related to bone marrow problems in >60% of the patients. Anthropometry revealed that >70% of patients were below the 10th percentile for height, weight and head circumference. The incidence of radial ray abnormalities, typical facies, small eyes or pigmentation abnormalities was >80%. A positive DEB test and hypoplastic bone marrow were found in >90% of patients. Death was commonly related to anaemia, bleeding and sepsis. 

Conclusion. The patients in this cohort were similar to those described previously, although certain variations, such as a high incidence of intracranial bleeds and lower incidence of renal anomalies, were noted.