thalassemia/proline

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Ukurasa 1 kutoka 21 matokeo

Proline, hydroxyproline, and ascorbic acid in thalassemia major.

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Ingia / Ingia

[Proline hydroxylase (hPH) as marker of hepatic fibrosis in beta thalassemia].

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Ingia / Ingia

Forty-four polytransfused thalassemic patients were considered to evaluate hPH enzyme, involved in collagen synthesis. The aim of this investigation was to verify the usefulness of such assay in the follow-up of liver damage in thalassaemic patients. The patients were separated into two groups: one

A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.

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Ingia / Ingia

Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia-like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG-->CCG) at codon 114 resulting in a leucine to proline

A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.

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Ingia / Ingia

This study describes a patient with a thalassemia intermedia-like phenotype in whom beta-globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T-C substitution at codon 114 of the beta-globin gene arising as a de novo mutation. The abnormal variant was designated Hb Brescia after

Hb Fulton-Georgia [α20(B1)His→Pro; HBA1: c.62A>C]: a new α-globin variant coinherited with α-thalassemia-2 (3.7 kb deletion) and Hb SC disease.

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Ingia / Ingia

We report a novel hemoglobin (Hb) variant that we named Hb Fulton-Georgia, caused by a point mutation in exon 1/codon 20 of the α-globin gene [α20(B1)His→Pro; HBA1: c.62A>C]. This α chain variant was identified in an adult African-American female with Hb SC disease who was also heterozygous for the

A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype.

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Ingia / Ingia

Molecular analysis of the beta-globin genes from a patient with a beta-thalassemia phenotype showed that a single nucleotide mutation (CTG-CCG) at codon 110 in one of the genes resulted in a leucine to proline substitution. The same mutation with a similar phenotype, was observed in her mother and

Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.

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Ingia / Ingia

A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which have also been found in Mediterranean, East Asian,

Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.

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Ingia / Ingia

We report two new point mutations causing alpha-thalassemia (alpha-thal) that could not be characterized by conventional biochemical studies. The first mutation is a single base substitution at codon 123 of the alpha1-globin gene [alpha123(H6)Ala-->Pro, GCC>CCC (alpha1)] and leads to the

Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia.

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Ingia / Ingia

Hemoglobin Crete, beta129 (h7)ala leads to pro, is a new mutant hemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with beta- and deltabeta-thalassemia. The propositus, who presented an unusual clinical picture of an "overcompensated" hemolytic

alpha-Thalassemia caused by an unstable alpha-globin mutant.

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Ingia / Ingia

In a previous study, molecular cloning of the alpha-globin genes from a patient with nondeletion Hb-H disease (genotype--/alpha alpha) showed that a single nucleotide mutation (CTG to CCG) in one of the genes resulted in a leucine to proline substitution. This paper describes the approach we used to

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

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Ingia / Ingia

We have previously reported the isolation of a gene from Xq13, coding for a putative regulator of transcription (XNP). It is a member of the helicase family, and has now been shown to be the gene involved in the X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. ATR-X mutations were

A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.

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Ingia / Ingia

We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the

Beta-thalassemia major and its effect on amino acid metabolism and growth in patients in the United Arab Emirates.

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Ingia / Ingia

BACKGROUND There may be a marked reduction in essential amino acids in the serum of children with thalassemia major and this is related to decreased growth in affected children. METHODS One hundred patients with beta-thalassemia and 50 control children selected from among those who had presented

Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.

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Ingia / Ingia

Clinical phenotypes associated with abnormal globin chain biosynthesis may result in thalassemia (deficient quantity) or hemolytic anemia (abnormal hemoglobins). However, the phenotypic expression of hyperunstable hemoglobin variants often includes features of thalassemia, along with variable

Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

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Ingia / Ingia

The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the region encompassing the delta-globin gene from three Greek Cypriot families suspected of having

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