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Biomedical subjects

I Bianco

Publications and source records attributed to I Bianco.

At least 37 records · Page 2Linked to original sources
PubMed1981

[Clinical aspects of thalassemia (or microcythemia)].

The thalassaemias are genetic syndromes brought about by a low or nil synthesis of one or more of the main globinic chains and by consequent imbalance of the normal ratio between alpha and non-alpha chains. Three basic pictures can be distinguished: (1) microcythemia or thalassaemia minima, the expression of heterozygosis for one microcythemic gene, which includes beta, delta beta and alpha microcythemias. Subjects are healthy but very often pale and asthenic, (2) intermediate thalassaemia, very similar to thalassaemia major, though a less severe disease. It is the expression of the presence of microythemic geness which results in a globin synthesis imbalance less marked than that of the thalassaemia major. The patients are frankly anemic and more or less pronounced hyperhemolysis (but they only need sporadic transfusions, usually at adult age), and present splenomegaly often of a considerable extent and hepatomegaly. Their physical growth and reproductive capacity are normal or nearly so and they attain the fifth or sixth decade of life. Two varieties of this syndrome have been identified, namely beta-intermediate thalassaemias (or Rietti-Greppi-Micheli's disease or also constitutional microcythemic anemia) and alpha-intermediate thalassaemias (or Hb H disease); (3) thalassaemia major or Cooley's anemia or Mediterranean anemia, the expression of homozygosis for severe genes of microcythemia which results in a marked globin synthesis imbalance; this is a so severe disease that not treated patients usually die when they are three-four years old. Nowadays, however, prognosis, clinical course and life expectancy of these patients are considerably improved so that they usually attain the third decade of age in relatively fair conditions. There are available three fundamental therapeutic actions: blood transfusions carried out at very short intervals; splenectomy which allows to reduce the rhythm of the blood transfusion regimen; the iron chelating therapy which delays the onset of the iron overloading in the organism. Finally, it is possible the prevention of this disease by preventing the procreation between microcythemics and by prenatal identification of Cooley's foetuses followed by thier selective abortion.

Abortion, Therapeutic↗
PubMed1980

Screening of thalassaemia carriers in intermediate school of Latium: results of four years' work.

From 1975 to 1979 the Rome Microcythaemia Centre carried out four health education campaigns and thalassaemia screenings among students of the intermediate schools throughout Latium, under the auspices and with the financial support of the Health Authorities of the Latium region. This project is aimed at avoiding reproduction by pairs of thalassaemia carriers and the birth of homozygous children. During the four campaigns 138 501 students were examined, that is, 70 to 76% of those enrolled. Of these 3343 were found to be thalassaemic. Thus the overall prevalence of thalassaemia in Latium is 2.41%, with minor fluctuations from one province to another and, above all, a slight, though definite, trend towards higher values in the southern part of Latium bordering on Campania. The screening was welcomed by the population and the thalassaemic families, there were no detectable negative side-effects, and it resulted in an increased awareness of the problem of the thalassaemias.

Adolescent↗
PubMed1978

First premarital screening of thalassaemia carriers in intermediate schools in Latium.

In the 1975 to 1976 school year, under the auspices of the Health Authorities of the Latium Region, the Rome Microcythaemia Centre carried out for the first time a partial screening survey of thalassaemia carriers among the students of the compulsory intermediate school in Latium. This work was the beginning of a new preventive school health service aimed at the prophylaxis of Cooley's disease. In 23 places investigated in Latium, 17724 students were examined, 13354 of whom were in Rome and 4370 elsewhere. The mean percentage of co-operation was 70% and the mean percentage of thalassaemia 2.42%. Thalassaemic students were invited to attend the centre for a check-up along with their families: about half had already come in by the end of June 1976. All students examined, whether normal or thalassaemic, have received written results of the tests. The screening survey aroused notable interest and obtained wide approval both at school and at home. The news of being thalassaemia carriers, even if not welcome, was never the cause of family tragedy.

Adolescent↗
PubMed1978

Heterozygous beta-thalassaemia with normal haemoglobin pattern. Haematologic, haemoglobin and biosynthesis study of 4 families.

Thalassaemia with normal levels of Hb A2 and Hb F and with an alpha/beta ratio higher than 1 is described in 4 families. 3 of these families show direct or indirect signs of the presence of the delta-thalassaemia gene along with the beta-thalassaemia gene. The fourth family leaves the question as to whether there is a single mutation of the deltabeta tract or a beta + delta-thalassaemia in coupling unanswered. The necessity of knowing of the existence of this thalassaemia which conceals the presence of a beta-thalassaemia gene, is stressed, above all in view of the danger that mating between a carrier of this thalassaemia and a carrier of classical beta-thalassaemia could result in the birth of children with Cooley's disease.

Adolescent↗
PubMed1977

Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial, hematologic and biosynthetic studies.

Globin chain synthesis has been studied in 17 patients with thalassemia intermedia, and their relatives, also investigated by routine hematologic and hemoglobinic tests. The mean a/non a ratio was always around 2.20-2.30. In patients with severe thalassemia major, used as a control, the mean a/non a ratio was significantly higher, that is 3.11-3.07. Therefore, the hypothesis that the cause of the lesser severity of the thalassemia intermedia is a lesser imbalance of globin chain synthesis, is suggested. One or both the parents of patients with thalassemia intermedia have mild beta-thalassemia and normal alpha/beta ratio, whereas the parents of patients with severe thalassemia major show a marked beta-thalassemia and a mean alpha/beta ration of 1.76. These data suggest that genes for beta +-thalassemia are responsible for thalassemia intermedia, and genes for beta o-thalassemia are responsible for thalassemia major. In two patients with thalassemia intermedia, the association of an alpha-thalassemia gene with homozygous beta-thalassemia that it is well known to reduce the globin chain imbalance typical of the beta-thalassemia, has also been observed.

Adolescent↗
PubMed1975

Screening for microcytemia in Italy: analysis of data collected in the past 30 years.

Extensive population surveys begun in Italy in 1943 revealed a high incidence of mycrocytemia. Health authorities established a national organization to combat microcytemia which financed and directed activities throughout Italy from 1955 to 1971. The work performed by the microcytemia centers in screening and prophylaxis is described. The results of a screening program underway since 1967 involving 46,559 students of the University of Rome are presented in detail. A preliminary survey of 256 families revealed that the incidence of subsequent births after the births of a child affected by Cooley's anemia was generally low. Results obtained to date are encouraging and justify more extensive programs for the prevention and treatment of microcytemia.

Adolescent↗