CYSTIC-FIBROSIS IN CHILDREN FROM ETHNIC-MINORITIES IN THE WEST MIDLANDS

Background. We have observed that Doctors often perceive that cystic f ibrosis (CF) is exceptionally rare in non-whitest and that this bias h as repeatedly resulted in diagnostic delay. We therefore compared the age at diagnosis, genetic features and relative prevalence of CF in no n-whites and white patients in the West Midlands. Methods. Analysis of data on all CF patients diagnosed in childhood and stored in the West Midlands CF register. Results. Sixteen of the 514 children on the reg ister were not of white European extraction, comprising 13 patients wh ose families originated from the Indian subcontinent, two of mixed Afr oCaribbean/white European extraction and one of mixed Pakistani/white European extraction. The median age of diagnosis was similar in the wh ite European and non-white patients (0.42 vs. 0.33 years, 95% CI for t he difference of the medians -0.15, 0.37). However, in five cases with typical clinical features the diagnosis appears to have been delayed because of the child's racial origin (median age of diagnosis 3.87 yea rs), and in five others the diagnosis was obvious (two siblings with C F, three had meconium ileus). There was a degree of consanguinity in n ine cases. Five patients were homozygous or heterozygous for the Delta F508 mutation, but no mutation could be identified in the remaining 1 1 patients. Conclusions. The possibility of CF needs to be considered in any patient with relevant clinical problems, regardless of racial o rigin. These findings need to be considered when planning any mass pop ulation screening programme for CF.