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Biomedical subjects

L F Bernini

Publications and source records attributed to L F Bernini.

At least 91 records · Page 5Linked to original sources
PubMed1981

Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin.

The interaction between beta(0) thalassemia and an heterocellular form of hereditary persistence of fetal haemoglobin (HPFH), presumably of the Swiss type, has been studied in three generations of a family in which both traits occur. The haematological parameters and the segregation of the two characters in the family suggest that the propositus, a 52-year-old male from southern Sardinia, is homozygous for beta(0) thalassemia and carrier of the HPFH. In spite of the complete suppression of adult haemoglobin synthesis, the patient is not anaemic and shows only morphological abnormalities of the red cells associated with a moderate decrease of the erythrocyte life span. Studies of the synthesis of haemoglobin chains in vitro have revealed only a mild degree of unbalance in the propositus, with a gamma/alpha ratio of 0.67, and a very slight unbalance in a 3-year-old child heterozygous for beta thalassaemia and HPFH. Preliminary analysis of the linkage between this kind of heterocellular HPFH and the beta Hb locus has been performed, utilizing all the suitable families reported in the literature. Although positive lod scores (1.535) have been obtained at a recombination fraction of 0.20, the data available are not sufficient to conclude in favour or against the linkage between the beta Hb locus and the heterocellular type of HPFH.

Adolescent↗
PubMed1981

Haemolytic disease of the newborn and chronic anaemia induced by gamma beta thalassaemia in a Dutch family.

Severe haemolytic anaemia with hyperbilirubinaemia and erythroblastaemia was observed in nine newborn infants belonging to one large family. One infant was still-born, two died shortly after birth, five recorded after receiving one or more exchange transfusions and one improved without transfusional therapy. In four out of six newborns whose bilirubin levels were determined, a mixed hyperbilirubinaemia was found with high concentrations of both free and conjugated bilirubin. At the end of the first year of life the surviving children, although in satisfactory general condition, showed a mild microcytic hypochromic anaemia with decreased red cell osmotic fragility and morphological abnormalities of the erythrocytes consisting of microcytosis, anisopoikilocytosis and target cells. The serum iron levels were normal. The same haematological picture was also present in those parents of the affected children that are members of this family; these adult had normal levels of Hbs A2 and F. Incorporation of [3H]leucine into the globin chains of two adults with this syndrome revealed a reduced beta-chain synthesis (beta/alpha ratio of 0 . 49 and 0 . 53, respectively). In the two infants available for this investigation, reduced gamma-chain production was found shortly after birth. In parallel with the switch from fetal to adult haemoglobin, the deficient gamma-chain production was replaced by a similar reduction of beta-chain synthesis. These results suggested, therefore, a combined deficiency of gamma- and beta-chain production. The normal levels of Hb A2 were compatible with a defective delta-chain synthesis as well. Analysis with restriction enzymes had shown previously a large deletion, comprising gamma and delta genes, in one of the chromosomes of the affected individuals. The same procedure had established that, in spite of the defective beta-chain production, the beta-globin structural gene is intact.

Adolescent↗
PubMed1981

[Hemolytic disease of the newborn and chronic hypochromic microcytic anemia in one family: gamma-delta-beta thalassemia].

Ten newborn infants, all belonging to one family, suffered from severe hemolytic anemia. Four babies died shortly before or after birth, six recovered (one spontaneously, 5 after one or more exchange transfusions). In 5 out of 8 patients a mixed hyperbilirubinemia was observed in the immediate postnatal period, with elevated levels of indirect- as well as direct-reacting bilirubin. After the neonatal period, a slight hypochromic, microcytic anemia persisted, without icterus but with decreased osmotic fragility of the erytrocytes and with target cells in the blood smear. The same hematological picture was observed in one of the parents of each affected baby. All anemic adults belong to one large family; therefore, a dominant mode of inheritance is most likely. Although the hematological findings are suggestive for beta-thalassemia normal HbF and HbA2 levels were observed. In vitro incorporation of radioactive leucine into globin chains in reticulocytes demonstrated defective synthesis of beta chains in the affected adults; in two affected infants the same technique showed defective gamma-chain synthesis as well. Analysis of the hemoglobin genes proved that the affected family members are suffering from heterozygous gamma-delta-beta-thalassemia, as originally described by Kan et al. (1972).

Adult↗
PubMed1980

Possible duplication of the hemoglobin alpha chain locus in sheep.

Only one type of alpha chain has been described so far in the hemoglobins of adult domestic sheep. A variant (Hb D) of the alpha chain, characterized by a substitution glycine leads to aspartic acid at position 15, has been described in Yugoslavian sheep. In this paper we report the identification of a second alpha chain (alpha 2), observed in several sheep when the globin was analyzed by CM-cellulose chromatography or the total hemolysate submitted to isoelectric focusing. The ratio of this chain to the usual one (alpha 1) in the globin of different animals is equal to either 1 : 2 or 1 : 4. The structural difference between alpha 1 and alpha 2 chains consists in the replacement of a leucine residue by an histidine in the position 113 or 114 of the polypeptide chain. Preliminary data on the frequency of the alpha 2 chain in eight domestic breeds indicate that this chain is fairly common, being present in 15 out of 40 animals examined. The results of breeding experiments between sheep of an appropriate alpha chain phenotype suggest the possibility of a duplication of the hemoglobin alpha locus in the Ovinae.

Amino Acid Sequence↗
PubMed1980

Dystrophia myotonica and myotonia congenita concurring in one family. A clinical and genetic study.

In a unique sibship of 5, 2 siblings were found to have dystrophia myotonica and 3 had myotonia congenita. A study was made of the paternal and maternal families and of the offspring of the 5 siblings. Eighty relatives were examined clinically, by slit-lamp and by electromyography. In the relatives of the mother of the sibship only dystrophia myotonica was found and in the relatives of the father only myotonia congenita. In the offspring of the sibship the two diseases were transmitted independently in the successive generations. All patients showed a clinical picture of either one or the other disease and transitional clinical forms were not found. A linkage study was performed in the family with myotonia congenita and in the family in which both diseases occurred. The myotonia congenita gene is probably not linked to the secretor and lutheran genes. The hypothesis that there is no linkage between myotonia congenita and the secretor-lutheran linkage group was found to be 25 times more probable than the alternative hypothesis that myotonia congenita is linked to this group. This family study therefore provides evidence that dystorphia myotonica and myotonia congenita are both clinically as well as genetically distinct.

Adolescent↗
PubMed1980

Frequency and quantitative levels of T gamma chain (Hb F Sardinia) in the fetal hemoglobin of newborn and fetuses.

The fetal hemoglobin of 137 Dutch newborn has been examined by peptide mapping after digestion with trypsin, in order to detect the T gamma chain (gamma chain bearing a replacement Ile replaced by Thr at position 75) and to assess its quantity relative to the total gamma chains. Forty-two (31%) individuals were carriers of this variant, with an average amount of T gamma chain equal to 18.89% +/- 4.12 (1 SD). Three babies had T gamma levels higher than 30%, outside, therefore, the upper limit of the distribution. If we consider these three children homozygous carriers and assume that the remaining thirty-nine are heterozygotes, the gene frequency of T gamma in this population is 0.16 and the observed frequencies of the three phenotypes (T gamma-/-, T gamma+/- and T gamma +/+) agree closely with the expected ones. The occurrence and levels of T gamma chain are apparently not subject to variations during the last 25 weeks of gestation. In a group of twenty-nine fetuses investigated between the 12th and 20th week gestation, seven were, in fact, positive and showed T gamma percentages (12-26%) within the limits found in newborn. Also, the relative amounts of G gamma and A gamma chains were identical to those calculated in babies born at term. The composition of fetal hemoglobin remains, thus, uniform from the 12th week of gestation to birth. A comparison of the distribution of T gamma and A gamma percentages in T gamma positive newborn supports indirectly the identification of T gamma chain as a polymorphic variant of A gamma chain.

Female↗
PubMed1979

Genetic control of survival in epidemics.

Descendants of Dutch colonists, who emigrated to Surinam in the last century and survived epidemics of typhoid and yellow fever with a total mortality of about 60%, were tested for twenty-six polymorphisms. The gene frequencies were compared with those of a large Dutch control sample. An analysis of drift indicated that the variations in gene frequencies observed for C3, Gm, HLA-B, and GLO were unlikely to be due to drift. Therefore these data might indicate selection through genetic control of survival in these epidemics.

Blood Group Antigens↗
PubMed1978

Phenotype and gene distribution of alpha-1-antitrypsin in a North Italian population.

A group of 202 unrelated Italians were screened for alpha1-antitrypsin using agarose-acrylamide electrophoresis and isoelectric focusing. The S and F gene frequencies were comparable to those found among Greeks and North European populations but they differed considerably from the frequencies found among Spaniards and Portuguese. The other gene frequencies appeared to be comparable to other populations, studied.

Alleles↗
PubMed1977

Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant.

Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for alpha1-antitrypsin (alpha1AT) variants by electrophoresis on agarose-polyacrylamide gels at pH 4.7 and isoelectric focusing (IEF). The frequencies of the Pi (Protease inhibitor) alleles are comparable to those observed in the North European populations. As expected, the frequency of the Z gene is higher in the group of patients with C.O.L.D. Also the frequency of MZ phenotypes is higher among these patients, but in this case the difference is not statistically significant. With the aid of the electrophoretic methods described in the text we were able to detect a new electrophoretic variant (M3) showing a mobility intermediate between the M1 and the M2 phenotypes.

Alleles↗
PubMed1977

Localization of HLA on the short arm of chromosome 6.

A detailed marker gene study in a large Dutch kindred segregating for a reciprocal translocation between the chromosomes 6 and 20, t(6;20) (p21; p13), revealed a close linkage between the HLA genes and the breakpoint on the short arm of 6. During this study an apparent peak lod score of 2.9 was obtained at a recombination value of 0.05 for a linkage between HLA and the breakpoint, indicating that the chromosomal region, carrying the HLA genes, is situated near the breakpoint in band 6p21 close to the transition to 6p22.

Abnormalities, Multiple↗
PubMed1976

Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.

A new type of hemoglobin F, in which isoleucine in position 75 (E 19) of the gamma chain is replaced by a threonine residue, has been found in 29 out of 32 homozygotes for beta thalassemia. The amount of this hemoglobin ranges from traces to 40% of the total Hb F. The same gamma75 Thr chain is also present in the Hb F of 40% of normal newborns and premature infants examined, of one 14-week-old fetus and in one out of 3 patients with aplastic anemia and raised levels of Hb F. Our results strongly suggest that the synthesis of this new chain is under the control of a gamma gene nonallelic with those coding for Agamma and Ggamma chains.

Adult↗
PubMed1975

Hemoglobin Koya Dora: high frequency of a chain termination mutant.

Approximately 10% of the members of the Koya Dora tribe from Andhra Pradesh (India) carry an alpha chain hemoglobin variant, Hb Koya Dora (Hb KD), usually in amounts of 0.5%-2% of total hemoglobin. In four presumed homozygotes for Hb KD, up to 10% of the abnormal hemoglobin was present. The alpha chain of Hb KD was found to be elongated by at least 16 residues, possibly as a result of a mutation of the normal alpha chain termination codon UAA TO UCA, coding for serine. A pedigree in which two individuals possess Hb KD as well as the alpha chain variant Hb Rampa and normal Hb A proves the existence of two alpha chain loci in this population. Hb DK resembles the previously described Hb Constant Spring [6, 7] in many aspects, probably also in its alpha thalassemia-like expression.

Amino Acids↗