39 results about "Delta beta Thalassaemia" patented technology

The invention relates to a fluorescence quantitative PCR detection kit for beta-thalassemia mutation. The kit comprises a PCR mixing reaction liquid, a positive control and fluorescence probes for detecting beta-thalassemia mutation genotype, wherein the PCR mixing reaction liquid contains PCR primers for amplifying a gene fragment on which a mutation site is positioned, and the mutation site is at least one mutation site selected from deletion mutation of a base corresponding to the site 41/42 amino acid of beta-globin gene, C-to-T mutation of a base corresponding to the site 654 amino acid of the second intron of beta-globin gene, A-to-T mutation of a base corresponding to the site 17 amino acid of beta-globin gene, A-to-G mutation of a base corresponding to the site 28 amino acid on the upstream of the promoter of beta-globin gene, A base insertion mutation of a base corresponding to the site 71/72 amino acid of beta-globin gene, and G-to-C mutation of a base corresponding to the site 5 amino acid of the first intron of beta-globin gene. With the technical scheme of the present invention, rapid, accurate and high sensitivity detection of mutation conditions of beta-thalassemia gene can be achieved, and especially 6 special site mutations of beta-thalassemia gene can be detected, wherein the 6 special site mutations are common in Chinese.

Methods of using one or more fumaric acid esters or pharmacologically active salts, derivatives, analogues, or prodrugs thereof to increase expression of fetal hemoglobin (HbF) are disclosed. The methods typically include administering to a subject an effective amount of one or more fumaric acid esters optionally in combination or alternation with hydroxyurea to induce HbF expression in the subject in an effective amount to reduce one or more symptoms of a sickle cell disorder, a hemoglobinopathy, or a beta-thalassemia, or to compensate for a genetic mutation is the human beta-globin gene (HBB) or an expression control sequence thereof. Pharmaceutical dosage units and dosage regimes for use in the disclosed methods are also provided.

The invention relates to a beta-thalassemia mutation detection kit, in particular to a kit for detecting the nucleotide polymorphism of beta-thalassemia by an asymmetric amplification method. The kit comprises a set of specific nucleotide polymorphism probes and a polymerase chain reaction (PCR) primer for amplifying a target gene in a sample, and can detect 27 types of beta-thalassemia mutations; and the detection process is quicker, and the detection result is more accurate.

The present invention relates to vectors comprising an alpha -globin locus control region ( alpha LCR) and a gene encoding an erythroid protein. In particular embodiments, a retroviral vector comprising an alpha LCR and a globin gene may be used to treat globin-based genetic disorders, including sickle cell anemia and beta -thalassemia.

The invention relates to a method for diagnosing, staging and/or monitoring a hemoglobin-related disorder such as β-thalassemia or a treatment against said hemoglobin-related disorder in a subject in need thereof based on the detection and/or quantification the presence of free α-Hb pool in a biological sample obtained from said subject.

The invention discloses a beta-thalassemia gene amplification kit and a method based on a recombinase polymerase amplification technology. The kit comprises RPA amplification primers which are respectively P1F-1 shown as SEQ ID NO. 1, P1Rbio-1 shown as SEQ ID NO. 2, P2F-1 shown as SEQ ID NO. 3, P2Rbio-1 shown as SEQ ID NO. 4, P3F-1 shown as SEQ ID NO. 5 and P3Rbio-1 shown as SEQ ID NO. 6. The amplification is performed on genomic DNA of a to-be-detected specimen by using the RPA amplification primers and can be completed within 30 minutes, and the sensitivity is high; an obtained amplificationproduct can be detected by a liquid phase chip, and the accuracy rate is high.

The present invention includes pharmaceutical composition comprising (2R,2R′)-3,3′-disulfanediyl bis(2-acetamidopropanamide)(diNACA) or D₃-N-acetyl cysteine amide, or a physiologically acceptable salt thereof, having a deuterium enrichment above the natural abundance of deuterium, and derivatives or solids thereof, and methods of using diNACA to treat eye diseases and other diseases associated with oxidative damage including, e.g., antivenom, beta-thallassemia, cataract, chronic obstructive pulmonary disease, macular degeneration, contrast-induced nephropathy, asthma, lung contusion, methamphetamine-induced oxidative stress, multiple sclerosis, Parkinson's disease, platelet apoptosis, Tardive dyskinesia, Alzheimer disease, HIV-1-associated dementia, mitochondrial diseases, myocardial myopathy, neurodegenerative diseases, pulmonary fibrosis, skin pigmentation, skin in need of rejuventation, antimicrobial infection, Friedreich's ataxia.

The invention discloses a kit for rapidly detecting five beta-thalassemia mutations and application thereof, and belongs to the field of disease detection products. The kit comprises an amplification primer pair of five common mutation sites of beta-thalassemia genes and also comprises 2xconc.Master Mix and magnesium ion. The application comprises the following steps: performing polymerase chain reaction (PCR) amplification on an analysis sample by using the kit, performing high resolution melting curve analysis, and comparing with a positive melting curve of the five mutation sites so as to determine whether mutations and mutation types exist in the five sites. The kit can simultaneously detect one or combination of more than one in the five mutation sites, comprising -28, CD17, CDs41/42, CDs71/72 and IVS-II-654, of the beta-thalassemia mutation, specific probes and sequencing are not needed, the needle sample amount is small, and the kit is rapid in detection, accurate and low in cost and is suitable for large-scale detection.

The invention provides a multi-PCR primer for detecting beta-mediterranean anemia mutation based on the next-generation sequencing technology, a method and application. The multi-PCR primer includes two or more primer pairs, namely, the primer pairs shown in SEQ ID NO:1 and SEQ ID NO:2, the primer pair shown in SEQ ID NO:3 and SEQ ID NO:4, the primer pair shown in SEQ ID NO:5 and SEQ ID NO:6, the primer pair shown in SEQ ID NO:7 and SEQ ID NO:8, the primer pair shown in SEQ ID NO:9 and SEQ ID NO:10 and the primer pair shown in SEQ ID NO:11 and SEQ ID NO:12. The multi-PCR primer can be used for efficiently detecting beta-mediterranean anemia mutation diversity and can cover 46 point mutation of beta-mediterranean anemia mutation of people in south of China.

The invention discloses a detection kit and an ARMS (amplification refractory mutation system)-QPCR (quantitative polymerase chain reaction) detection method for beta-mediterranean anemia beta17 (A-T) point mutation, and is characterized in that: the detection kit includes a PCR (polymerase chain reaction) solution I, a PCR solution II, a mixed enzyme solution, a DNA extraction solution, a negative comparison solution and a positive comparison product; and the ARMS-QPCR detection method includes sample collection, ARMS primer design, sample processing and other steps. By use of the detection kit for the beta-mediterranean anemia beta17 (A-T) point mutation, the detection of a to-be-detected beta-mediterranean anemia beta17 (A-T) point mutation DNA sample can be completed only for 3 hours, at the same time, a real-time fluorescent quantitative PCR method for detection of the beta-mediterranean anemia beta17 (A-T) point mutation is strong in gene specificity, high in detection sensitivity, simple, small in error, and high in accuracy.

A nucleic acid hybridization membrane strip used for diagnosing the beta-Mediterranean anema is composed of a substrate and the specific probes fixed to the substrate. Said each specific probe (mutant probe) is relative to one of the mutant beta-globin gene sites and has the sequence of 14-20 bases. Its reagent kit is also disclosed.

The invention concerns a method for determining, by flow cytometry, the hemoglobin F (HbF) content of each erythroid cell of a set of erythroid cells. This method applies in particular to determining the HbF content of each red blood cell of a set of red blood cells. The invention also concerns a method for determining the amount of red blood cells transfused into a patient and for monitoring the therapeutic efficacy of a treatment for sickle cell disease or β-thalassemia.

The present invention provides compounds (such as compounds of formula I-a) that induce γ globin expression and pharmaceutical compositions thereof. Such compounds may have beneficial therapeutic effects. Compounds and compositions described herein may be used to treat hemoglobinopathies such as β-thalassemia and sickle cell anemia. (I-a)