Frederick J de Serres1, Ignacio Blanco, Enrique Fernández-Bustillo. 1. Center for the Evaluation of Risks to Human Reproduction, National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709-2233, USA. deserres@bellsouth.net
Abstract
BACKGROUND: Our earlier publications have demonstrated that alpha-1 antitrypsin (AAT) deficiency is not a rare disorder in the United States with at least 33,728 PI*ZZ homozygote individuals at risk. METHOD: Using data on the prevalences of the two most common deficiency alleles PI*S and PI*Z in the five major individual ethnic subgroups in the United States, the numbers of heterozygotes for PI*MS and PI*MZ, and compound heterozygotes/homozygotes for PI*SS, PI*SZ and PI*ZZ have been determined for each ethnic subgroup. RESULTS: When the data for the prevalence of AAT deficiency in individual cohorts are displayed as a function of ethnic subgroup, striking differences are found in the numbers in each of the five phenotypic classes of PI*S and PI*Z. This type of analysis has demonstrated striking differences in the risk for AAT deficiency in each of these five ethnic subgroups. This analysis as a function of ethnic subgroup also has demonstrated that there are higher numbers of each of the five PI*S and PI*Z deficiency classes, namely PI*MS, PI*SS, PI*MZ, PI*SZ and PI*ZZ. CONCLUSIONS: This analysis has demonstrated that the highest risk for AAT deficiency is found in Whites, followed by Hispanics and Blacks with the lowest prevalence among Mexican Americans and no risk among Asians. The numbers for those at risk for AAT deficiency in the United States are well documented and in the present analysis there are, for example, a total of 48,904 PI*ZZ homozygotes at risk. The critical question for our healthcare professionals is 'When will the medical community acknowledge that AAT deficiency is a prevalent and well-documented human genetic disorder and develop appropriate mechanisms for early diagnosis, medical follow-up and treatment both in the United States and worldwide?'
BACKGROUND: Our earlier publications have demonstrated that alpha-1 antitrypsin (AAT) deficiency is not a rare disorder in the United States with at least 33,728 PI*ZZ homozygote individuals at risk. METHOD: Using data on the prevalences of the two most common deficiency alleles PI*S and PI*Z in the five major individual ethnic subgroups in the United States, the numbers of heterozygotes for PI*MS and PI*MZ, and compound heterozygotes/homozygotes for PI*SS, PI*SZ and PI*ZZ have been determined for each ethnic subgroup. RESULTS: When the data for the prevalence of AAT deficiency in individual cohorts are displayed as a function of ethnic subgroup, striking differences are found in the numbers in each of the five phenotypic classes of PI*S and PI*Z. This type of analysis has demonstrated striking differences in the risk for AAT deficiency in each of these five ethnic subgroups. This analysis as a function of ethnic subgroup also has demonstrated that there are higher numbers of each of the five PI*S and PI*Z deficiency classes, namely PI*MS, PI*SS, PI*MZ, PI*SZ and PI*ZZ. CONCLUSIONS: This analysis has demonstrated that the highest risk for AAT deficiency is found in Whites, followed by Hispanics and Blacks with the lowest prevalence among Mexican Americans and no risk among Asians. The numbers for those at risk for AAT deficiency in the United States are well documented and in the present analysis there are, for example, a total of 48,904 PI*ZZ homozygotes at risk. The critical question for our healthcare professionals is 'When will the medical community acknowledge that AAT deficiency is a prevalent and well-documented humangenetic disorder and develop appropriate mechanisms for early diagnosis, medical follow-up and treatment both in the United States and worldwide?'