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Biomedical subjects

M D Cappellini

Publications and source records attributed to M D Cappellini.

At least 109 records · Page 6Linked to original sources
PubMed1986

Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.

Two siblings, both splenectomized at an early age for hereditary spherocytosis, had a severe hemochromatosis develop. The human leukocyte antigen (HLA) system typing showed that they were half HLA identical. All the other members of the family who did not have evidence of hereditary spherocytosis, including those who displayed identical HLA haplotypes with the two patients, did not have any increase in iron stores. These results suggest that the two siblings are heterozygous for idiopathic hemochromatosis and that the coexistence of this condition with hereditary spherocytosis can cause a severe iron overload.

Adult↗
PubMed1986

Feasibility of prenatal diagnosis of beta thalassaemia by DNA polymorphisms in an Italian population.

A feasibility study of prenatal diagnosis of beta thalassaemia in a northern Italian population has been carried out. Twenty-five families have been studied, each consisting of two parents and a homozygous beta thalassaemia child, thus enabling linkage analysis of restriction fragment length polymorphisms (RFLPs) to the normal and the thalassaemic chromosomes. Using seven standard RFLPs, 19/25 families could be offered prenatal diagnosis; inclusion of the recently described Ava II psi beta polymorphism increased this figure to 23/25 (92%) of the families.

Child↗
PubMed1986

Alpha thalassaemia in an Italian population.

The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.

Chromosome Deletion↗
PubMed1984

Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster.

We report a study of four families of Italian origin in which heterocellular HPFH is inherited linked to beta thalassemia over two or three generations. The HPFH + beta thalassemia carriers showed thalassemic blood pictures and elevated HbF and F-cell number without increase in the HbF/F-cell content. Association of this gene complex with a second beta thalassemia trait gives rise to a mild clinical picture characterized by 9-12 g/dl of mainly HbF in peripheral blood and no transfusion requirement. In two families, independent segregation of the HPFH or beta-thal trait was observed, and in one case the study of the DNA polymorphisms within the gamma delta beta gene cluster indicated that the HPFH mutation lies outside that DNA region. In one family the coexistence of a polymorphic variant of the A gamma chain (the A gamma T chain) allowed us to demonstrate that the increased gamma chain synthesis caused by the heterocellular HPFH determinant is directed by both chromosomes.

Adolescent↗
PubMed1984

Long-term haemopoiesis in human fetal liver cell cultures.

Haemopoiesis in human fetal liver is almost entirely restricted to the erythroid series but when fetal liver cells were cultured under conditions established for the long-term maintenance of adult marrow haemopoiesis, a rapid switch to granulopoiesis was observed. Erythroid progenitor cells (BFU-E) rapidly disappeared, even though no humoral or cellular inhibitors of erythropoiesis could be detected, while myeloid progenitors (CFU-GM) increased in number. When the fetal liver cells were seeded onto stromal layers derived from adult marrow, in which endogenous haemopoiesis had ceased, granulopoiesis was established and maintained for more than a year, considerably longer than has previously been achieved with human haemopoietic cells.

Cell Differentiation↗
PubMed1983

Aplastic crisis due to parvovirus infection in pyruvate kinase deficiency.

A thirteen-year-old boy with congenital haemolytic anaemia due to pyruvate kinase (PK) deficiency had an aplastic crisis. A serum parvovirus-like virus (SPLV) was demonstrated in the blood by electron microscopy and, subsequently, IgM and IgG antibodies to the prototype SPLV B19 were detected. In an attempt to define the level of erythropoiesis that is involved in parvovirus-induced bone marrow suppression, the levels of circulating early erythroid progenitors (burst forming units erythroid, BFU-E) were monitored during the crisis and recovery period. The virus-containing plasma inhibited the formation of BFU-Es from non-immune subjects and this effect was neutralised by convalescent serum. Colony forming units granulocyte-macrophage (CFU-GM) were also inhibited but this was probably non-specific since neutralisation did not reverse the effect. These experiments, together with the clinical data, suggest a selective effect of SPLV at the stage of erythroid progenitors.

Adolescent↗
PubMed1983

A gene controlling fetal hemoglobin expression in adults is not linked to the non-alpha globin cluster.

The possible linkage between a gene causing heterocellular hereditary persistence of fetal hemoglobin (HPFH) and human non-alpha globin loci has been studied in a large Sardinian family. In this family a homozygous beta o-thalassemic patient was found, with an unusually mild form of this disease, which was ascribed to the co-existence of a gene causing heterocellular HPFH. DNA polymorphisms in the non-alpha globin cluster were analyzed by restriction enzyme digestion with HincII, HindIII and BamHI and with epsilon-, gamma-and beta-globin probes; the pattern of inheritance of these polymorphisms indicates that the HPFH gene is transmitted with one beta o-thalassemic gene in a single instance, with the second beta o-thalassemic gene in three instances and with a normal beta-globin gene in two cases. These data indicate that this HPFH gene is not linked to the non-alpha globin gene cluster, in contrast to previous observations with different HPFH genes, and suggest that this gene might code for diffusible substances acting, directly or indirectly, on gamma-globin gene expression.

Adult↗
PubMed1982

The iron status of Italian subjects with beta-thalassemia trait.

Serum iron, transferrin saturation, serum ferritin and urinary iron excretion have been tested in a group of Italian subjects with beta-thalassemia trait. A number of these subjects, mostly men, had signs of increased iron load. Serum ferritin was the most sensitive index among those measured for detection of iron overload and was positively correlated with desferrioxamine-induced urinary iron excretion. Italian males with beta-thalassemia trait may be at high risk of developing iron overload even without prolonged iron or transfusional therapy.

Adolescent↗
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

Non-specific iron in patients with beta-thalassaemia trait and chronic active hepatitis.

A non-specific iron fraction, not bound to transferrin, has been looked for in the sera of 42 never-transfused patients with beta-thalassaemia trait, 17 of whom had chronic active hepatitis, negative for HBV infection or alcohol abuse. Non-specific iron was found only in the sera of those patients with beta-thalassaemia trait plus chronic active hepatitis who had complete transferrin saturation, high serum ferritin levels and urinary iron excretion and a high degree of hepatic siderosis. In view of the known toxicity of non-transferrin iron, we suggest that this non-transferrin iron fraction may be responsible for the liver damage in these patients. Furthermore, the positive correlation between the presence and the amount of non-transferrin iron and the levels of serum ferritin suggests that this fraction is a sensitive indicator of iron-induced toxicity when severe iron overload slowly develops in patients with beta-thalassaemia trait even in the absence of any iron administration.

Adult↗
PubMed1980

Hemoglobin synthesis in individual bursts from normal adult blood: all bursts and subcolonies synthesize G gamma-and A gamma-globin chains.

Gamma-globin chain synthesis has been evaluated in individual bursts and subcolonies that were generated by normal adult blood BFU-Es in methylcellulose cultures containing semipurified erythropoietin (Ep) and then analyzed via either isoelectric focusing (IEF) of globin chains or immunofluorescence techniques. At variance with previously reported results, based on plasma clot culture and immunofluorescence, all bursts and subcolonies analyzed synthesize gamma-globin chains. Identification of gamma-chains has been confirmed by preparative IEF of HbF, followed by either carboxymethylcellulose chromatography or IEF analysis of the resulting globin chains. In all bursts analyzed, the relative synthesis of the two types of gamma-globin chains (G gamma and A gamma) shows an adult ratio (i.e., approximately 1:1). The results obtained via IEF have been confirmed by immunofluorescence studies, which apparently showed presence of at least some HbF-positive cells within all scrutinized bursts or subcolonies. The significance of these studies is discussed in the light of current hypotheses on mechanism(s) underlying HbF synthesis in normal adults.

Cells, Cultured↗
PubMed1980

Organization of alpha-globin genes in Hb Hasharon (alpha 47 asp replaced by his) carriers.

Restriction enzymes analysis of the DNA from two unrelated Italian families with Hb Hasharon, a variant Hb (alpha 47asp replaced by his) frequently occurring in the Polesine area in Italy, indicates that this variant is associated to an alpha globin gene deletion. The alpha Hash genotype most likely results from a mutation on an alpha thal2 genotype.

Asparagine↗