Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Because total cholesterol levels have been found to be lower in patients affected by thalassemia major and intermedia, we examined the plasma lipid pattern of 628 beta-thalassemia trait carriers and 4552 controls in order to evaluate whether the plasma lipid impairment is also present in the heterozygous state. Total cholesterol and low density lipoprotein (LDL)-cholesterol levels were significantly lower in beta-thalassemia trait carriers when compared to controls, whereas plasma triglycerides and high density lipoprotein (HDL)-cholesterol levels did not differ between the two groups. We suggest that accelerated erythropoiesis and increased uptake of LDL by macrophages and histiocytes of the reticuloendothelial system are the main determinants of low plasma cholesterol levels in heterozygous thalassemia.
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PMID:Plasma lipids in beta-thalassemia minor. 271 66

We have studied a nuclear family containing a single child with severe beta-thalassemia intermedia, a Greek-Cypriot mother with hematological findings of beta-thalassemia trait, and a Polish father who is hematologically normal. Since both the child and her father were heterozygous for a DNA polymorphism within the beta-globin gene, it was possible to clone and sequence the beta-globin gene identical by descent from both the child and her father. A nonsense mutation in codon 121 (GAA----TAA) was found in the beta-globin gene of the child, while the same gene from her father lacked this mutation and was normal. This mutation has not been previously observed among over 200 beta-thalassemia genes characterized in Caucasians. Since the mutation eliminates an EcoRI site in the beta-globin gene, we could show that the mutation is not present in genomic DNA of the father. To rule out germinal mosaicism, sperm DNA of the father was also digested with EcoRI, and the mutant EcoRI fragment was not observed under conditions that would detect the mutation if it were present in at least 2% of sperm cells. Routine HLA and blood group testing supported stated paternity. In addition, studies with 17 DNA probes that detect multiple allele polymorphisms increased the probability of stated paternity to at least 10(8):1. These data provide evidence that the G----T change in codon 121 of the beta-globin gene in the child is the result of a spontaneous mutation that occurred during spermatogenesis in a paternal germ cell.
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PMID:Characterization of a spontaneous mutation to a beta-thalassemia allele. 301 70

DNA mapping was performed in seven unrelated Hb H patients and nine carriers for alpha-thalassemia trait originating from Algeria. This study has allowed us to identify four alpha-thalassemia haplotypes: the (-alpha 3.7) haplotype, which is the most frequent (18 of 23 alpha-thalassemic chromosomes), the (-(alpha)20.5) haplotype, a (--) haplotype, and an (alpha alpha)T haplotype. Our results also show that the (-alpha 3.7) haplotypes encountered in the Algerian population are heterogeneous and differ by the site of the unequal crossover responsible for the 3.7-kb deletion and the size of the interzeta fragment. In addition, during this survey we observed that normal chromosomes bearing a polymorphic BglII site are associated with different interzeta fragments.
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PMID:Alpha-thalassemia haplotypes in the Algerian population. 303 Sep 25

Thirty-five infants and children with beta-thalassemia major and 12 with beta-thalassemia trait were studied. Their ages ranged between 6 months and 12 years. Thirty-three were males and 14 females. Spontaneous rosette (E1-RFC), total rosette (E2-RFC), enumeration of T lymphocyte subsets using monoclonal antibodies (OKT3, OKT4, and OKT8), migration inhibition factor (MIF) assay and in vivo delayed hypersensitivity skin reactions were tested. Lower mean T cell population was present in thalassemia major but not the trait. The helper/suppressor ratio was decreased in patients with evidence of hypersplenism. Patients who had suffered from pneumonia or hepatitis manifested lower mean T cell count, depletion of helper cells and decreased helper/suppressor ratio. They also showed depressed delayed cutaneous hypersensitivity and MIF activity. Study of the cell-mediated immunity in patients with thalassemia might be useful to detect those who could be-more susceptible to infections.
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PMID:T cell functions in infants and children with beta-thalassemia. 312 38

The incidence of alpha-thalassemia trait (alpha-thal-1 and alpha-thal-2) among Southern Chinese in Hong Kong is about 3%. From June 1983 to September 1987, prenatal diagnosis for homozygous alpha-thal-1 was performed in 88 pregnancies at risk, using direct DNA analysis of amniotic fluid cells or chorionic villi. Twenty-one homozygous alpha-thal-1 fetuses were aborted and confirmed as Hb Bart's hydrops fetalis, and two were "Hb H" hydrops fetalis. Of 47 pregnancies delivered, 26 were alpha-thal-1 heterozygotes, 10 normal, eight alpha-thal-1/normal. Twenty-one pregnancies, diagnosed as alpha-thal-1/normal, await delivery. Based on a 6% incidence of beta-thalassemia minor among pregnant women in Hong Kong, the number of pregnancies at risk for beta-thalassemia major should be 288 per annum. However, since February 1984, only 25 diagnoses were performed. Comprehensive screening and education programs need to be implemented. The majority of beta-thalassemia defects in Southern Chinese are point mutations, single nucleotide insertions or minor deletions, not detectable by standard gene mapping techniques. With linkage analysis of the defective gene to polymorphic restriction sites, a definitive diagnosis can be obtained in 50% of the families, while in the remaining there is a 50% exclusion rate. We routinely use the Hind III-3' beta, Bam HI-3' beta, Ava II-beta, and Hinc II-psi beta sites for linkage analysis. For first pregnancies, the marked linkage disequilibrium of the Bam HI polymorphism can be applied in 29% of the cases. In nonconclusive cases, fetal blood beta/gamma globin chain synthetic ratio was used.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Prenatal diagnosis of alpha- and beta-thalassemias: experience in Hong Kong. 320 16

Findings are presented on a Pakistani family in Doha, Qatar with hemoglobin D-Los Angeles (alpha 2 beta 3 121 (glutamine----glycine) and thalassemia trait. The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin D-Los Angeles. This, the eighth confirmed case in the medical literature, is reported to emphasize its clinical manifestations and genetic basis.
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PMID:Hemoglobin D-beta (0) thalassemia. A case report and family study. 323 8

This paper describes a complex combination of four thalassemia genes (delta(+), beta(0), nondeletion and deletion alpha-thalassemia) in the spouse of a typical high Hb A2 beta-thalassemia carrier presenting for genetic counselling. This complex gene combination resulted in a hematological phenotype, characterized by thalassemia-like red cell indices, normal Hb A2 and Hb F levels and slightly reduced alpha/beta globin chain synthesis ratio, and therefore not indicative for the presence of beta-thalassemia trait. Family studies in combination with alpha-globin gene mapping, haplotype analysis at the beta-globin gene cluster and definition of the beta-thalassemia mutation by oligonucleotide hybridization led us to identify a beta-thalassemia mutation, to define the molecular basis for this phenotype and give the appropriate genetic counselling.
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PMID:Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations. 335 76

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.
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PMID:[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria]. 337 29

Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled synthetic oligonucleotide probes. The patient had a clinically severe condition; his Hb Lepore-beta-thalassemia was of the beta + type, as about 8-10% of the non-alpha chain was normal beta A. The same T----A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia intermedia with a low level of Hb F (13.1%) and a relatively high beta A chain synthesis. These data are similar to those obtained for other types of beta +-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the beta-globin gene.
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PMID:Beta-thalassemia due to a T----A mutation within the ATA box. 338 1

The relative proportions of spectrin tetramer and dimer forms extrated from red cell membranes in a low ionic strength buffer at 4 degrees C were determined for 15 normal subjects, 27 subjects with alpha-thalassemia (7 alpha-thalassemia trait, 9 Hb H disease (alpha-thal 1/alpha-thal 2) and 11 Hb H with Hb Constant Spring (CS), 23 subjects with beta-thalassemia (6 beta-thalassemia trait, 5 homozygous beta-thalassemia, 11 beta(0)-thalassemia with Hb E and 1 beta(+)-thalassemia with Hb E), 6 subjects with Hb E (2 homozygous and 4 carriers) and 1 subject with combined alpha-thal 1/Hb CS and Hb E (AE Bart's disease). In all subjects (except carriers of Hb E and 1 splenectomized case of beta(0)-thal/Hb E) spectrin dimer forms were elevated when compared to levels in normal controls, but there were no significant differences between carrier and disease forms. Conversion of spectrin dimers to tetramers at 30 degrees C was reduced in the thalassemic subjects with disease but was within normal range for thalassemic carriers.
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PMID:Defective spectrin dimer self-association in thalassemic red cells. 359 13


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