No abstract

In a community in Västerbotten county in northern Sweden occupationally dominated by a sulphite pulp factory all individuals (n = 3,466) received a questionnaire concerning respiratory symptoms, 94.0% answered and 8.1% claimed to have symptoms indicative of chronic obstructive lung disease (COLD). Of these individuals 93% were examined clinically, and the relationships between respiratory symptoms, verified COLD, smoking, occupation and quantitative and qualitative variations in the α₁-antitrypsin (α₁-AT) system (Pi) were examined. The frequency of all rare Pi types together was increased among individuals with COLD compared to a sample of individuals without respiratory symptoms and to the population. In individuals with COLD the frequencies of the MS, MZ and MF types taken separately were significantly increased when compared to the population. There were no significant differences in Pi frequencies between patients with chronic bronchitis and bronchial asthma, nor between sulphite pulp workers with COLD and other patients with COLD. Among individuals with respiratory symptoms chronic bronchitis was found to be correlated with occupation at the sulphite pulp factory, smoking and rare Pi types, the correlation coefficients being 0.42, 0.34 and 0.14, respectively. The M subtypes showed no association with COLD. Quantitative α₁-AT differences between individuals with COLD and individuals without respiratory symptoms were found only in the M₁M₂ type. Low α₁-AT levels (below (–)2 SD units) among M type individuals as a whole were not associated with COLD.

We present a 4-year-old girl with acute lymphocytic leukemia (ALL) and only 25 chromosomes at cytogenetic examination of her bone marrow. Severe hypodiploidy is extremely rare in childhood leukemia and is almost exclusively associated with ALL. To our knowledge only six cases with banded metaphases have been published. The chromosome number in the present case is the lowest ever reported. Our patient as well as other reported cases have disomy for chromosome 21. The prognosis for ALL with hypodiploidy is poor with a reported mean survival of 9 months. All published patients are females.

An initiation codon mutation ATG-->ATA of the beta-globin gene was found in seven members of three generations of a family living in northern Sweden. This mutation, which has not previously been described, changes the initiation codon for methionine into a codon for isoleucine and will then result in a beta zero-thalassemic phenotype. The affected family members all present hematological findings typical for beta-thalassemic trait, with slight anemia, marked microcytosis, and increased levels of Hb A2.