ABSTRACT
Using a combination of oligonucleotide probes and restriction endonuclease enzymes, we characterize beta-thalassemic mutations in 91 homozygous patients and 86 unrelated carriers. Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, confirming the wide molecular heterogeneity of beta-thalassemia in Calabria. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detection of mutations in Calabria.
Subject(s)
Mutation , Prenatal Diagnosis , beta-Thalassemia/genetics , Codon , Female , Frameshift Mutation , Heterozygote , Homozygote , Humans , Italy , Pregnancy , beta-Thalassemia/diagnosisSubject(s)
Antigens, Differentiation/analysis , Antigens, Neoplasm/analysis , Bone Marrow Cells , Lymphocyte Subsets/immunology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Child , Child, Preschool , Female , Humans , Male , Neprilysin , Precursor Cell Lymphoblastic Leukemia-Lymphoma/immunology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathologyABSTRACT
Sixty transfusion-dependent thalassemic patients were studied by simultaneous measurement of circulating thyroid hormones, basal thyroid-stimulating hormone (TSH) and TSH response to thyrotropin-releasing hormone with the aim of evaluating the frequency of hypothyroidism in such patients, and the relationship between hypothyroidism and compliance with treatment and iron overload. Thyroid failure was present in 31 of the 60 patients. A correlation was found between impairment of thyroid functions, duration of chronic hypoxia and the activities of various transaminases. The results of this study emphasize the importance of early evaluation of thyroid function in thalassemic patients and suggest that anemia and hypoxia may potentiate the toxicity of iron deposition in endocrine glands.
Subject(s)
Hypothyroidism/complications , Thalassemia/complications , Adolescent , Blood Transfusion , Chelation Therapy , Child , Female , Ferritins/blood , Hemoglobins/analysis , Humans , Hypothyroidism/blood , Iron/metabolism , Male , Pituitary Gland/physiology , Splenectomy , Thalassemia/blood , Thalassemia/therapy , Thyroid Gland/physiologyABSTRACT
One hundred patients with chronic lymphocytic leukemia (CLL) followed in our department between November 1969 and December 1982 were reviewed and classified according to the staging system proposed by the International Workshop on CLL (IWCLL). Analysis of actuarial survival curves revealed a significant chi-square value for heterogeneity and trend. In addition, thrombocytopenia and anemia appeared to be the most important risk factors. A large variability in the course of disease, not well explained by the staging system of the IWCLL, was found among the nonanemic and nonthrombopenic patients. Analysis of A and B stage patients according to absolute peripheral blood lymphocytosis (less or more than 50 X 10(9)/liter) showed two separate patterns of survival.
