Erythrocyte membrane antigen frequencies in patients with Type II congenital smell loss

Abstract

OBJECTIVE-The objective of this study was to determine whether there are genetic factors associated with Type II congenital smell loss.STUDY DESIGN-The expression frequencies of 16 erythrocyte antigens among patients with Type II congenital smell loss were determined and compared to those of a large control group. CONCLUSIONS-These findings describe the presence of a previously unrevealed genetic tendency among patients with Type II congenital smell loss related to erythrocyte surface antigen expression. The deviation in expression rate of Duffy b suggests a target gene and chromosome region in which future research into this form of congenital smell loss may reveal a more specific genetic basis for Type II congenital smell loss. METHODS-Blood

Initiation of smell function in patients with congenital hyposmia

“…Type II represents 88% of patients [1,2]. They do not have a family history of smell loss and do not have significant brain, somatic or defined genetic abnormalities [1,2,5]. Despite these differences, both types have similar degrees of loss of smell function [1,2,5].…”

“…We have extensively studied patients with Type II congenital hyposmia [1,2,5] including a report which described localization of a potential genetic abnormality on chromosome 1 [2,5]. In these and other studies we evaluated smell function using both subjective responses [6,7] and olfactometry [6,7] to measure smell function before and after treatment with the oral phosphodiesterase inhibitor theophylline [6,7] which initiated smell function in many groups of patients with various types of smell loss [6,7] including some with Type II congenital hyposmia.…”

“…They have a family history of congenital loss of smell with associated anatomical abnormalities of brain, gonadal function and other somatic abnormalities with several specified genetic abnormalities [3,4]. Type II represents 88% of patients [1,2]. They do not have a family history of smell loss and do not have significant brain, somatic or defined genetic abnormalities [1,2,5].…”

“…This syndrome consists of patients of two types. Type I represents about 12% of patients [1,2]. They have a family history of congenital loss of smell with associated anatomical abnormalities of brain, gonadal function and other somatic abnormalities with several specified genetic abnormalities [3,4].…”

“…Congenital smell loss (hyposmia) affects 400,000-500,000 people in the United States [1,2]. This syndrome consists of patients of two types.…”