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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.
J Med Genet 1978 Dec
PMID:Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia. 74 16

From now on antenatal diagnosis of haemoglobinopathies is possible. Fetal blood can be taken from the uterus from the 17th to the 20th week of the pregnancy by direct puncture of the placenta or placentocentesis or by selective puncture of a straight vein close to its insertion in the cord on the fetal surface of the placenta, using a fetoscope. Biochemical techniques today allow us to detect beta thalassaemia major (with total absence of synthesis or with synthesis of less than 2 per cent of the beta A chain of haemoglobin by the fetus) and drepanocytosis (which is the synthesis of the chain beta S by the in the absence of production of the chain beta A). It is possible in cases where the fetal blood that has been taken is seriously contaminated by maternal blood (which is often the case with direct punctures) by using purification methods to increase the proportion of fetal red blood cells in the sample by eliminating adult reticulocytes which could cause errors in diagnosis. There are several centres where this type of diagnosis is being carried out. Some of them now have two years' experience and their results are encouraging. In spite of their difficulty these methods of investigation can allow couples at risk to have normal children or heterozygous infants. They can help them to avoid the need for termination of pregnancy or permanent contraception.
J Gynecol Obstet Biol Reprod (Paris) 1978 Dec
PMID:[The antenatal diagnosis of haemoglobinopathies. A preliminary study (author's transl)]. 74 43

Further studies have been carried out on blood of the 15-year-old Negro male from Baltimore who was the first reported case of the homozygous state for hereditary persistence of fetal haemoglobin. His red cells contain only Hb F; Hbs A and A2 have never been detected. Over a 15-year period of follow up the red cells of this individual have shown persistent microcytosis with reduced MCH and MCV values. His whole-blood p50 value is decreased, probably because of lack of interaction between Hb F and 2,3-diphosphoglycerate. However, his haemoglobin level at the age of 15 years is lower than would be predicted from the degree of increased oxygen affinity. Globin-chain synthesis studies suggest that this is because he has a mild thalassaemia disorder with an alpha/gamma-chain production ratio of about 1.5, similar to that found in beta-thalassemia heterozygotes. Thus Negro HPFH appears to be a well-compensated form of delta beta thalassaemia.
Br J Haematol 1976 Dec
PMID:The Negro variety of hereditary persistence of fetal haemoglobin is a mild form of thalassaemia. 99 Jan 87

Complementary DNA (cDNA) specific for gamma-globin nucleotide sequences has been prepared by hybridizing total cDNA made from cord blood messenger RNA (mRNA) as template to an excess of normal adult human globin mRNA and recovering the single-stranded cDNA from hydroxylapatite. The specificity of the gamma cDNA for gamma mRNA sequences is strongly supported by the hybridization of this cDNA at low Cot values (Co, concentration of RNA and t, time in seconds) to RNA samples containing large amounts of functional gamma globin mRNA and the lack of hybridization to RNA samples containing little, if any, gamma-globin mRNA. The absence of cross-hybridization of gamma cDNA with alpha, beta, and delta mRNAs is demonstrated by the complete hybridization of the gamma cDNA to mRNA samples completely lacking either alpha or beta and delta mRNA. An estimate of the number of gamma-globin genes in human cellular DNA was obtained by hybridization of purified gamma cDNA to DNA from spleen and white blood cells of normal and beta-thalassemia subjects and measurement of the percent of gamma cDNA hybridized at saturation. The results indicate that there are between one and two gamma-globin genes per total haploid gene DNA equivalent obtained from both normal and beta-thalassemia subjects. These values are consistent with genetic evidence for the presence of multiple gamma gene loci in human cells. The finding that the number of gamma-globin genes in beta-thalassemia DNA is similar to that in nonthalassemia DNA indicates that a deletion of gamma-globin genes cannot account for either the inadequate gamma-globin synthesis or indirectly for the decreased or absent beta-globin synthesis in beta-thalassemia cells.
J Clin Invest 1976 Dec
PMID:Quantitation of human gamma globin genes and gamma globin mRNA with purified gamma globin complementary DNA. 99 55

We attempted prenatal diagnosis of hemoglobinopathies in 15 cases--11 for beta-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration. Globin synthesis was assessed by incubation of samples with 3H-leucine and chain separation on carboxymethylcellulose columns. Homozygous disease was predicted in two pregnancies, which were interrupted, and the diagnosis confirmed. In one case homozygosity was suspected. A repeat test was advised but not accepted. The fetus had thalassemia trait. One pregnancy was interrupted despite our prediction of thalassemia trait. Eight pregnancies went to term. Seven predictions that the infants would not have homozygous disease were confirmed. One prediction of sickle trait proved to be sickle-cell disease. Although prenatal diagnosis of hemoglobinopathies is feasible, the present frequency of fetal loss and diagnostic error indicates need for improvement.
N Engl J Med 1976 Dec 23
PMID:Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. 99 41

Hemoglobin A2 is a batch fractionated on a column containing diethylaminoethyl-cellulose (DE52, Whatman) with a discontinuous buffer system at pH 8.9 and 7.3. A short micro-column method is also presented, which allows separation in less than 30 min with no interference from hemoglobin S. Both methods clearly distinguish normal from thalassemia specimens, and are simpler and more rapid than previously published methods.
Clin Chem 1976 Dec
PMID:Improved batch and column separation in the assay of hemoglobin A2. 100 Aug 3

Globin mRNAs were isolated from circulating reticulocytes both from rats carrying a homozygous, recessive mutation causing a severe thalassemia-like syndrome and from normal rats. After first identifying the rat globin chains as alpha or beta chains, the translational products primed by both polysomal and nonpolysomal mRNAs in wheat germ 30000 x g supernatant were analyzed: the ratio of alpha to beta globin mRNAs found in polysomes isolated from mutant rats is identical to the ratio of their products synthesized in vivo while the ratio of these mRNAs is quite different in the nonpolysomal fraction, the latter being enriched in alpha globin mRNA. No difference is found in the ratio of alpha and beta globin mRNAs in the polysomal and nonpolysomal RNA isolated from normal rats, both being identical to the ratio of their products synthesized in vivo. One third of the total amount of mRNA found in mutant cells is not in polysomes as compared to only 6 percent for the mRNA from normal lysates. These results suggest that a translational control mechanism is involved although the decreased globin synthesis in b/b anemia can not be fully accounted for by its operation.
Eur J Biochem 1976 Dec
PMID:Rat b/b anemia: translation of normal and anemic globin mRNA in wheat-germ cell-free system. 100 56

In two Chinese patients with homozygous beta(0)-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct beta-chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the beta cDNA annealed to the RNAs at almost the same rate as the alpha and gamma cDNA. The beta cDNA-RNA hydrid formed efficiently and was thermally stable, whereas hybrids between gamma and beta sequences formed slowly and denatured at a significantly lower temperature. Thus, we conclude that the beta cDNA was annealing to beta-globin sequences in these two patients, and that nonfunctional beta-globin mRNA was present. Similar results were obtained in the reticulocyte RNA from an Italian patient with homozygous beta(0)-thalassemia.
Proc Natl Acad Sci U S A 1975 Dec
PMID:Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia. 106 Oct 99

Porotic hyperostosis was observed in 34 percent of 539 crania excavated from sites in Arizona and New Mexico. Common causes of this cranial pathology in the Old World (thalassemia, sickel cell anemia, and malargia) do not explain its occurrence in the American Southwest, as malaria and hemoglobinopathies are not known to have existed in the New World prior to European contact. Iron deficiency anemia which may also be assoicated with porotic hyperostosis occurs on a mass level only with hookworm infestation or nutritionally-related iron deficiency. Since hookworm infestation is rare in the American southwest and has not been reported in prehistoric southwestern American Indians, the hypothesis of nutritional anemia was examined. In canyon bottom sites where the diet was heavily dependent on maize, which is low in iron and also contains an inhibitor of iron absorption, significantly more crania had porotic hyperostosis than in sage plain sites, where the diet included ample animal protein rich in easily absorbable iron (p less than .001). Furthermore, canyon bottom children, who were more susceptible to iron deficiency anemia, had a higher incidence of porotic hyperostosis lesions than adults (p less than .0001).
Am J Roentgenol Radium Ther Nucl Med 1975 Dec
PMID:The paleoepidemiology of porotic hyperostosis in the American Southwest: Radiological and ecological considerations. 110 84

The ratio of total globin alpha to beta chain synthesis was determined in reticulocytes isolated from the blood of the members of a black family, some of whom had sickle cell trait with low blood HbS concentrations (25-30%). The results support the hypothesis that sickle cell trait individuals with low HbS concentrations also carry a gene for alpha-thalassemia.
Biochem Genet 1975 Dec
PMID:Hemoglobin synthesis studies of a family with alpha-thalassemia trait and sickle cell trait. 120 Sep 78


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