BACKGROUND: The increase in @entity13554 is the most important parameter for the identification of @entity2395 carriers. However, in routine screening for @entity8453 , some cases are difficult to classify because the level of @entity13554 is not typically elevated. In this work, we report the results of a molecular investigation on a cohort of subjects with borderline @entity13554 . METHODS: All subjects with a @entity2395 carrier partner and a borderline percentage level of @entity13554 were investigated for the presence of a pathological mutation in the b-globin gene. All negative subjects were screened for both the @entity4846 mutation and the presence of aaa/ or aaaa/ alleles. The subjects with reduced MCV and/or @entity27127 were also screened for deletional and nondeletional a-globin gene defects. RESULTS: Various b-globin mutations and @entity4846 gene defects are the most common @entity74 responsible for this phenotype in our population. CONCLUSION: @entity4846 mutations are important in a screening program for @entity8453 . An increase in HbF in association with borderline @entity13554 levels is a useful but not exclusive marker that suggests the investigation of this gene. On the basis of our findings, we are able to suggest the molecular procedure to use in a population characterized by a high prevalence of @entity2395 carriers.

The Problem of Borderline Hemoglobin A2 Levels in the Screening for XXXX Carriers in Sardinia.

@entity27127 :: ('5367', 'Gene') :: ['MCH'] @entity13554 :: ('3040', 'Gene') :: ['HbA2'] @entity8453 :: ('MESH:D006453', 'Disease') :: ['hemoglobinopathies'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic determinants'] @entity4846 :: ('10661', 'Gene') :: ['KLF1'] @entity2395 :: ('MESH:D013789', 'Disease') :: ['b-thalassemia', 'thalassemia']
@entity2395 :: (MESH:D013789,Disease) :: ['b-Thalassemia']
