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Biomedical subjects

A Cao

Publications and source records attributed to A Cao.

At least 307 records · Page 17Linked to original sources
PubMed1980

Serum ferritin, liver iron stores, and liver histology in children with thalassaemia.

Serum ferritin, liver iron stores, and liver histology were studied in 38 children with thalassaemia major who were being treated by regular blood transfusions. There was no correlation between serum ferritin levels and either the number of transfusions or the amount of iron deposited in the liver. However, for a given level of iron stores, ferritin levels were higher in patients with chronic hepatitis (including chronic aggressive and chronic persistent forms) than in those with hepatic siderosis only. We conclude that serum ferritin reflects tissue iron deposits in regularly transfused thalassaemic patients, only in the absence of hepatitis.

Blood Transfusion↗
PubMed1980

Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children.

We report red cell indices and haemoglobin (Hb)A2 levels in Sardinian children with heterozygous beta 0-thalassaemia and in normal controls aged 6 months to 12 years. Iron-deficient children and those with haematological findings indicative of alpha-thalassaemia were excluded. As in adult carriers, these subjects have significantly increased mean red cell counts and significantly reduced mean Hb levels, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), haematocrit, and mean corpuscular haemoglobin concentration. From 66 to 76% of the heterozygous beta 0 thalassaemia children examined were anaemic. MCH and MCV were within the normal range in 2.8% of these children. Serum ferritin levels showed no difference from those of normal controls.

Child↗
PubMed1980

Chronic liver disease in transfusion-dependent thalassaemia: hepatitis B virus marker studies.

The systematic screening of 253 children with transfusion-dependent homozygous beta-thalassaemia revealed a high incidence of hepatitis B virus markers. The highest frequencies of hepatitis B surface antigen (HBsAg) and antibody to hepatitis B core antigen (anti-HBc) were found in the group of patients with the smallest number of transfusions, while the highest frequency of antibody to hepatitis B surface antigen (anti-HBs) was detected in the patients who had had the largest number of transfusions. Follow-up of these patients showed (a) a high incidence of acute hepatitis B, which was mainly subclinical; (b) normal hepatitis B surface antigen clearance and normal antibody to hepatitis B surface development; and (c) a high frequency of increased transaminase values for over six months. In all the subjects with persistently high transaminase, histological examination revealed chronic persistent hepatitis or chronic active hepatitis. Apart from two cases of chronic active hepatitis with no B virus markers, and two cases of chronic persistent hepatitis with HBsAg and anti-HBc in the serum, all these subjects were anti-HBs positive but HGsAg and anti-HBc negative.

Adolescent↗
PubMed1980

alpha-Thalassaemia in Sardinian infants.

A haemoglobin survey carried out in southern Sardinian newborn infants showed an overall incidence of 12.9% with haemoglobin Bart's of more than 1%. The distribution was trimodal: low (1 to 2%), intermediate (2 to 10%), and high (about 25%). A considerable overlap was seen between the first two groups. Both the 1 to 2% and 2 to 10% groups had thalassaemia-like red cell indices at birth. Newborn infants ascertained as having alpha-thalassaemia at follow-up did not necessarily have unbalanced alpha/non-alpha chain synthesis at birth. At follow-up examination two subjects in the 25% group had developed haemoglobin H disease, and the 2 to 10% group had thalassaemia-like red cell indices and unbalanced globin chain synthesis ratios indicative of heterozygous alpha-thalassaemia. The 1 to 2% group either had normal or slightly reduced alpha-chain synthesis ratios, indicative of the silent alpha-thalassaemia carrier state. Two subjects with 2.0% and 2.5% haemoglobin Bart's at birth had heterozygous beta-thalassaemia at follow-up. Therefore, they were double heterozygotes for alpha- and beta-thalassaemia with alpha/beta-globin chain synthesis ratios of 0.81 and 0.86. Genotype assessment in a few families showed that infants with haemoglobin Bart's levels of more than 2% may have one of the genotypes --alpha/ --alpha or -- --/alpha alpha.

Female↗
PubMed1980

Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study.

88 adults with thalassemia-like red cell indices, normal serum iron and normal hemoglobin (Hb) A2 and F levels, diagnosed in a mass screening had Hb H inclusion bodies studies (65 subjects) or Hb H inclusion bodies studies and globin chain synthesis analysis (23 subjects). The alpha/beta ratio of 0.70 +/- 0.10 was the same as in obligate alpha-thalassemia-1 (alpha-thal) carriers. Hb H inclusion bodies studies were found to be a reliable test for alpha-thal trait identification, resulting positive in approximately 70% of suspected carriers. The alpha-thal carrier defined by Hb H preparation or by globin chain synthesis had significant reduction in the mean Hb level, hematocrit, mean corpuscular hemoglobin and a significant increase in mean red cell count, but there was some overlap with controls.

Erythrocyte Count↗
PubMed1979

A case of D13 ring chromosome.

A case of D ring chromosome identified with trypsin banding as a 13 with loss of the bands p12 and q34 is reported. The clinical features characteristically associated with the loss of these specific segments were present.

Child, Preschool↗
PubMed1979

Interaction of alpha and beta thalassaemia genes in two Sardinian families.

Our paper describes two Sardinian families with alpha-beta thalassaemia interaction. In the first (family S), the propositus, whose haemoglobin pattern at birth consisted of about 25% Hb Bart's and 75% Hb F, successively developed a clinical and haematological picture typical of Cooleys anaemia. Haematological and globin chain synthesis studies together with these findings suggest that he is homozygous for beta 0 thalassaemia and heterozygous for alpha thalassaemia-1 and alpha thalassaemia-2. This conclusion is further substantiated by the finding of various combination of alpha and beta thalassaemia among his family members. In the P family two twins whose haemoglobin pattern and synthesis data at birth were similar to those of the proband of family S died in the neonatal period. The mother was assumed to be a compound heterozygte for alpha thalassaemia-2 and beta 0 thalassaemia and the father for alpha thalassaemia-1 and beta 0 thalassaemia. The homozygous state for beta 0 thalassaemia in association with the alpha thalassaemia 1 and alpha thalassaemia 2 genes results in a severe clinical picture similar to that of a homozygous beta 0 thalassaemia. The interaction between the heterozygous state for beta 0 thalassaemia and the alpha thalassaemia 1 or alpha thalassaemia 2 genes, or the combination of both, results in a haematological picture similar to that of a beta thalassaemia heterozygote.

Adolescent↗
PubMed1979

Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.

Prenatal diagnosis by globin chain synthesis analysis on fetal blood samples obtained by placental aspiration was performed in two pregnancies at risk for beta-thalassaemia. Since both fathers had blood group AB, and both mothers had group O, fetal red cell concentration from maternal-fetal mixtures was obtained with the aid of anti-AB serum. With this approach it was possible to carry out globin chain synthesis analysis with very small amounts of fetal blood. Heterozygous and normal genotypes were ascertained and confirmed after birth.

ABO Blood-Group System↗
PubMed1979

Auditory involvement in thalassemia major.

The auditory function of 75 children affected by homozygous beta0-thalassemia, managed with a low transfusion scheme and treated irregularly with low doses of desferrioxamine, and of 75 controls were examined. In 12 patients a mild bilateral conductive hearing impairment due to bony hypertrophy and/or adenoid hypertrophy was found. In 43 cases a moderate monolateral or bilateral sensory-neural hearing loss at high frequencies with recruitment phenomenon was observed. Ferritin levels were determined in a randomly chosen group of these patients with (14) and without heaing loss (11). In the subjects with sensory-neural hearing loss the mean ferritin levels were significantly higher than in those with no hearing defect. There was no obvious relation between sensory-neural damage on the one hand and Hb levels and unit of blood transfused on the other. The results of this study suggest that iron overload could be a cause of damage in the high frequency elements of the auditory mechanism. Intermittent hypoxia and slow 8th nerve compression due to bony hypertrophy as causes of auditory involvement are also discussed.

Child↗
PubMed1979

Beta 0 thalassemia trait in Sardinia.

The red cell indices and results of globin chain synthesis in peripheral blood of obligate beta 0 thalassemia (beta 0 thal) carriers (parents of homozygous beta 0 thal children) and beta thalassemia (beta thal) carriers identified during mass screening are reported. Red cell indices were similar in obligate beta 0 carriers and in carriers diagnosed during mass screening. However there was a higher incidence of anemia in female obligate beta 0 thal carriers. In Sardinia the beta 0 thal carrier showed the usual hematological characteristics of the high Hb A2 beta thal carrier with microcytosis, hypochromia, reduced osmotic fragility; Hb F greater than 1% was found in 30% of the carriers. With MCV, MCH, osmotic fragility test (OFT) and Shine and Lal discriminant function we found 3.5%, 1.5%, 3.5% and 4.0% respectively false negatives in carrier identification. A part from one subject, all obligate carriers had elevated Hb A2 levels. The alpha/beta ratio in obligate carriers (mean +/- SD) was 1.83 +/- 0.26 (N = 30).

Adolescent↗
PubMed1979

Molecular basis of hemoglobin-H disease in the Mediterranean population.

We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with a single remaining alpha-globin gene. The nondeletion type of alpha-thalassemia was found in 3, and a "dysfunctional" gene in one. We conclude that the predominant cause of alpha-thalassemia in these populations is gene deletion.

Chromosome Deletion↗
PubMed1978

Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant.

This report describes a child, offspring of a first cousin marriage, with a severe and progressive disorder of bone and cartilage growth associated with a myotonia-like syndrome. Clinical manifestations of this disease began at birth with marked generalized muscle hypertrophy, stiffness, myotonia and multiple skeletal deformities. Successively severe dwarfism and mental retardation were observed. Neurophysiological studies showed continuous high frequently low voltage activity at rest and myotonic discharges which did not wax and wane. These abnormalities persisted after complete curarization. Muscle biopsy showed mild dystrophic changes. Polymeric glycosaminoglycans and degradation product excretion was normal. These findings are similar to those described in Schwartz-Jampel syndrome, but since the clinical picture was fully expressed at birth and was unusually severe, it is suggested that the patient's condition may have represented a severe variant of this syndrome.

Abnormalities, Multiple↗
PubMed1978

Thalassaemia types and their incidence in Sardinia.

The frequency of thalassaemia syndromes in Sardinia was examined by a population survey. The data indicate that about 12.6% of the Sardinian subjects are carriers of beta-thalassaemia, while 6.9% of the population carries an alpha-thalassaemia gene, with a slight difference between the various provinces. These are among the highest frequencies of thalassaemia genes found in a Caucasian population today. A survey of hospital inpatients and outpatients showed a newborn incidence of homozygous beta-thalassaemia of 1 in 300. The reasons for the difference between the expected and observed incidence figures are discussed. Moreover, 3 subjects with deltabeta0-thalassaemia trait, 6 carriers of heterocellular persistence of fetal haemoglobin (HPFH), 1 sickle cell trait, and 3 subjects with Hb J Sardegna were found. Genetic heterogeneity of beta-thalassaemia syndromes in this population may generally result from interaction of alpha- and beta-thalassaemia genes.

Genes↗
PubMed1978

Schwartz-Jampel syndrome in two daughters of first cousins.

The clinical and pathological features of two sisters born from consanguineous parents and affected by the rare Schwartz-Jampel syndrome are reported. The parental consanguinity of these two patients and the findings of electromyographic changes in the mother strongly support an autosomal recessive pattern of inheritance. No response of growth hormone secretion to arginine and insulin stimulation tests was found.

Abnormalities, Multiple↗
PubMed1978

Hemoglobin H disease in Sardinia: phenotypic and genetic observations.

In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The severity of hemoglobin H disease in Sardinian subjects shows a high degree of variability. Clinically it usually appears intermediate between the hemoglobin H disease found in Oriental and Negro populations. The alpha/beta specific activity ratio was 0.42 +/- 0.10 indicating an analogous biochemical defect like that described in the Chinese. On the basis of hematological data and alpha/beta ratio, the genetics of hemoglobin H disease in Sardinians seem to follow a pattern similar to that observed in Orientals: one parent showing alpha-thalassemia-1 trait and the other alpha-thalassemia-2 trait. Parent offspring transmission of hemoglobin H disease did occur in 2 out of 6 hemoglobin H matings with spouses carrying the alpha-thalassemia-1 gene. This observation indicates either a high frequency of alpha-thalassemia trait in Sardinians or a high incidence of inbreeding. In one family the mating of a patient with hemoglobin H disease and a normal person produces 6/6 offspring with alpha-thalassemia-1. The genetic implications of this transmission pattern are discussed.

Adult↗