Fetal red blood cells are necessary for the antenatal diagnosis of hemoglobinopathies. Fetal blood may be obtained in utero, by amniocentesis or fetoscopy, from the 17th to the 20th week of pregnancy. At this time, biochemical techniques may detect bêta-thalassemia major (fetal synthesis of hemoglobin btaA chain totally absent or less than 2% and sickle cell disease (fetal synthesis of btaS chain, without any production of bêtaA chain). When fetal blood has been severely contaminated by maternal blood, purification techniques allow enrichment of the sample in fetal red blood cells by the elimination of adult reticulocytes which may lead to errors in diagnosis.

Erythrocytes↗

PubMedDate not supplied

CFTR gene mutations in adults with disseminated bronchiectasis.

The severity and type of clinical manifestations are variable in patients with cystic fibrosis (CF). The respiratory syndromes in these patients consist of lung infections associated with disseminated bronchiectasis (DB), asthma, and chronic obstructive pulmonary disease. To investigate the possible involvement of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in chronic pulmonary disease in adults, we studied 32 DB patients with a clinically isolated respiratory syndrome. Careful analysis of all the CFTR gene exons and their flanking regions revealed a significantly increased frequency of CFTR gene mutations in these patients. Thirteen CFTR gene mutations were identified in sixteen different alleles. Six of these mutations, which have previously been reported as CF defects, were found on nine alleles. A further four, two of which had not previously been described (D192N and 406-2 AdeltaC), are potentially disease-causing mutations. We also identified three rare substitutions (R31C, L997F, T1220I), which could be involved in mild CFTR gene disease. Four patients were compound heterozygotes, one carried two CFTR gene mutations (possibly allelic) and six were heterozygous for a mutation. These results indicate that CFTR gene mutations may play a role in bronchiectatic lung disease, possibly in a multifactorial context. These findings have implications for genetic counselling of DB patients and their families.

Adult↗