Cystic fibrosis in children from ethnic minorities in the West Midlands

Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

“…Consanguinity was present in 13% of the patients. This is similar to earlier reports from India [19,20] but less than that reported (50%) by Spencer et al [7] from Indian subcontinent patients in UK. Out of the 13 patients born to consanguineous parents, eight were homozygous (7 for p. F508del and 1 for c.1161delC) and one was heterozygous (for c.1161delC); suggesting consanguinity results in a higher risk of homozygous CF mutations in India.…”

“…The estimated prevalence of CF among Indians living in UK and USA is 1 in 10,000 to 1 in 12,000 and 1 in 40,000 respectively [5][6][7]. The prevalence of CF in a north Indian population was estimated to be 1 in 43,321 to 1 in 100,323 by screening 955 cord blood samples for the presence of p.F508del mutation [8].…”

Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous ΔF508 controls

“…The fact that there are no significant differences in the age at diagnosis or major symptoms at presentation between UK white and Asian CF populations [5], despite the contrasting spectrum of CFTR mutations, suggests that Asian origin is not a barrier to early or appropriate diagnosis (nor is it a barrier in US African-American CF patients [24]). Spencer's study in 1994 found that 5 out of 13 Asian CF children had a delayed diagnosis as a direct result of their racial origin [25]; however, our earlier work found no difference in the age of diagnosis between 88 Asian patients and 5078 Caucasians using the national database [5]. Therefore, other factors must be involved in the subsequent clinical course of Asian CF patients in the UK.…”

Molecular Basis of Cystic Fibrosis Disease: An Indian Perspective

“…The incidence in migrant Indian population in USA has been estimated to be 1 in 40,000 [4] and in the UK between 1 in 10,000 to 12,000 [13]. The median age of diagnosis among Indian American is 12 months compared with 6 months among Caucasians American children.…”