9 results about "Sickle cell anemia" patented technology

Relates to the technical field of biology, in particular to a primer group, a probe group, a kit and application thereof. The primer group comprises a first primer pair, and the first primer pair comprises a first upstream primer and a first downstream primer; the second primer pair comprises a second upstream primer and a second downstream primer; wherein the first upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 1 or has at least 80% homology with the SEQ ID NO: 1; the first downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 2 or has at least 80% homology with the SEQ ID NO: 2; the second upstream primer has a nucleic acid sequence as shown in SEQ ID NO: 3 or has at least 80% homology with the SEQ ID NO: 3; the second downstream primer has a nucleic acid sequence as shown in SEQ ID NO: 4 or has at least 80% homology with the SEQ ID NO: 4. Based on the specific primer sequence, accurate and stable detection of the sickle cell anemia gene mutation site can be realized.

The invention is directed to pharmaceutical compositions for oral administration comprising deferiprone. In particular the invention is directed to a modified-release formulation in form of mini-tablets suitable for twice-a-day oral administration for the treatment of diseases which cause an overload of iron for example, thalassemia, sickle cell anemia, hemochromatosis, and myelodysplasia, or for the prevention and / or treatment of diseases which are caused by an overload of iron. The invention is also directed to methods of making said formulation.

This invention discloses a method and its application for constructing a sickle cell anemia model pig with HBB gene mutations using nuclear transfer donor cells. This invention provides the application of HBB-gU1, HBB-gD3, HBB-mutant-ss174, and NCN proteins in a preparation kit. The kit is used for: preparing recombinant cells; preparing sickle cell anemia model pigs; preparing sickle cell anemia cell models, sickle cell anemia tissue models, or sickle cell anemia organ models. HBB-gU1 is an sgRNA, and its target sequence binding region is shown as nucleotides 3-22 of SEQ ID NO: 18. HBB-gD3 is an sgRNA, and its target sequence binding region is shown as nucleotides 3-22 of SEQ ID NO: 19. HBB-mutant-ss174 is a single-stranded DNA molecule shown in SEQ ID NO: 20. The NCN protein is a Cas9 protein or a fusion protein containing a Cas9 protein. This invention has significant application value for the development of drugs for sickle cell anemia and for elucidating the pathogenesis of the disease.

The present invention relates to the technical field of biology, and in particular to a primer group, a probe group, and a kit and a use thereof. The primer group comprises: a first primer pair comprising a first forward primer and a first reverse primer; and a second primer pair comprising a second forward primer and a second reverse primer, wherein the first forward primer has a nucleic acid sequence as shown in SEQ ID NO: 1 or a nucleic acid sequence having at least 80% homology to SEQ ID NO: 1, the first reverse primer has a nucleic acid sequence as shown in SEQ ID NO: 2 or a nucleic acid sequence having at least 80% homology to SEQ ID NO: 2, the second forward primer has a nucleic acid sequence as shown in SEQ ID NO: 3 or a nucleic acid sequence having at least 80% homology to SEQ ID NO: 3, and the second reverse primer has a nucleic acid sequence as shown in SEQ ID NO: 4 or a nucleic acid sequence having at least 80% homology to SEQ ID NO: 4. On the basis of the specific primer sequences, accurate and stable detection of gene mutation sites in sickle cell anemia can be achieved.

The present invention relates to products and compositions and their uses. In particular, the invention relates to nucleic acid products that interfere with or inhibit the expression of the TMPRSS6 gene in combination with one or more iron chelators and possibly other active agents, as well as to therapeutic uses such as the treatment of hemochromatosis, porphyria, and blood disorders such as beta-thalassemia, sickle cell anemia, and transfusion iron overload or myelodysplastic syndrome, as well as infections and mortality not related to relapses associated with bone marrow transplantation.

The present disclosure provides a composition for treating hemoglobinopathy (e.g. sickle cell anemia, hemophilia, β-thalassemia, etc.). The present composition comprises a nuclease for modifying the BCL11A gene and a CRISPR-Cas system comprising a guide RNA. Also provided is a method for treatment by administering, in a subject with a hemoglobinopathy-related disease, a system that targets the BCL11A gene or a nucleic acid that encodes such a system.

The utility model relates to a test paper surface shell and a test paper shell for detecting sickle-type anemia, which not only enable detection and reading to be more convenient, but also can avoid misreading, and are convenient to produce and use, and one side of the upper end face of the test paper surface shell is provided with a sample adding window. A first observation window, a second observation window, a third observation window and a fourth observation window are arranged on one side of the upper end surface of the detection test paper surface shell, the first observation window, the second observation window, the third observation window and the fourth observation window are linearly arranged, a C-line mark is arranged on one side of the first observation window, an HbA-line mark is arranged on one side of the second observation window, and a C-line mark is arranged on one side of the HbA-line mark. One side of the third observation window is provided with an Hbs line mark, and one side of the fourth observation window is provided with an HbC line mark. The test paper surface shell and the test paper shell for detecting sickle-type anemia have the advantages that detection and reading are more convenient, misreading can be avoided, and meanwhile, the test paper surface shell and the test paper shell are convenient to produce and use.

The invention further discloses application of a pharmaceutical composition containing the novel compound containing the diaza subunit sulfonyl structure in preparation of drugs for treating anemia-related diseases. The anemia-related diseases may relate to myelodysplastic syndrome (MDS), hemoglobinopathy, sickle-type cell anemia (SCD), beta-thalassemia, hereditary non-spherical cell hemolytic anemia, hemolytic anemia, hereditary spherical polycythemia, hereditary elliptical polycythemia, non-beta lipoproteinemia, paroxysmal nocturnal hemoglobinuria, and the like. Acquired hemolytic anemia or congenital anemia or chronic anemia.

The present disclosure provides compositions for the treatment of hemoglobinopathies (e.g., sickle-type anemia, hemophilia, beta-thalassemia, etc.). The composition provided by the invention comprises a nuclease used for modifying the BCL11A gene and a CRISPR-Cas system of a guide RNA (Ribonucleic Acid). Also provided are methods of effecting treatment by administering a system targeting the BCL11A gene or a nucleic acid encoding such a system in a subject having a hemoglobinopathy-related disease.