23 results about "Thalassemia" patented technology

The present invention relates to products and compositions and their uses. In particular, the invention relates to nucleic acid products that interfere with the expression of the TMPRSS6 gene or inhibit its expression and to therapeutic uses such as for the treatment of hemochromatosis, porphyria and hematological disorders such as β-thalassemia, sickle cell disease and iron overload from transfusions or myelodysplastic syndrome.

The present application relates to the use of idasanutlin, or a pharmaceutically acceptable salt, a solvate, an isomer, or a functional derivative thereof for the treatment of hemoglobinopathies, including sickle cell disease, thalassemia, sickle cell beta thalassemia (Hb S / β Th), and leukocytosis as well as myeloproliferative conditions, polycythemia, and acute and chronic hemolytic anemia. It was found that idasanutlin increases HbF levels in multipotent erythroleukemia, hematopoietic stem cells, and sickle cell disease cells to provide another therapy for treatment of sickle cell disease.

An object of the present invention is to provide an eluent for suppressing bimodality of hemoglobin F which is a β - thalassemia disease marker in hemoglobin analysis in cation exchange chromatography and stably separating hemoglobin F without depending on the type of diluent, and a method for separating hemoglobin F and a method for diagnosing hemoglobin F using the eluent.SOLUTION: In the analysis of a hemoglobin sample using cation exchange chromatography, the problem is solved by an eluent having a pH of 5.0 to 6.0, which is passed when separating and quantifying hemoglobin F from the hemoglobin sample, wherein the eluent contains at least one or more pH buffers, and a relationship between the pH of the eluent and a pKa value in a range of 5.0 to 7.0 among pKa values indicated by the pH buffers is a relationship of pH ≤ pKa ≤ pH + 1.0.SELECTED DRAWING: Figure 1

The invention relates to the crossing field of medical image processing and artificial intelligence technology, in particular to a bone marrow cell morphology artificial intelligence analysis method and system, and the method comprises the steps: obtaining a multi-view high-resolution image of a bone marrow smear and / or a peripheral blood smear under the oil immersion magnification, and carrying out the preprocessing; carrying out red blood cell coarse segmentation and fine classification through a cascade deep network, and identifying target-shaped, broken, teardrop-shaped and elliptical red blood cells; correcting broken red blood cell counting by adopting a fragment aggregation correction algorithm; and calculating an MCI value in combination with blood routine test data, and carrying out weighted fusion on the MCI value and the abnormal red blood cell proportion to generate a thalassemia screening comprehensive score. Therefore, the problems of low manual identification efficiency, insufficient abnormal red blood cell identification accuracy, large broken red blood cell counting deviation, difficulty in distinguishing multiple types of abnormal red blood cells, lack of organic combination with clinical diagnosis indexes and the like are solved, and the efficiency and accuracy of morphological analysis of bone marrow cells are improved; and a reliable basis is provided for diagnosis of diseases such as thalassemia.

The invention belongs to the technical field of pharmaceutical preparations, and particularly relates to application of a qi-tonifying and blood-maintaining preparation in preparation of a medicine for treating thalassemia. Researches show that the preparation for tonifying qi and maintaining blood is used for treating thalassemia and can effectively improve the anemia state and iron metabolism disorder of patients. Specifically, the medicine can significantly improve the hemoglobin level, increase the red blood cell count and the red blood cell average volume, and improve the serum iron content, the ferritin content and the reticulocyte proportion. The results show that the qi-tonifying and blood-maintaining preparation has the effect of promoting the bone marrow hematopoiesis function and can regulate and optimize the iron metabolism process. The invention provides an economical, effective and convenient treatment scheme for the thalassemia patient.

The invention belongs to the technical field of biological medicines, and particularly relates to a pharmaceutical composition for treating thalassemia and application thereof. The invention provides a pharmaceutical composition for treating thalassemia, which comprises: (a) a cell population containing a first type of cells and a second type of cells, the cell population can be used for differentiating to generate red blood cells, target loci of the first type of cells are edited to increase red blood cells expressing functional hemoglobin generated by differentiation of the cell population, and target loci of the second type of cells are edited to generate target loci of the second type of cells; the target gene loci of the second type of cells are not edited; (b) a mobilizing agent. The medicine composition can achieve the effect of treating thalassemia through cell transplantation without removing marrow, and the clinical treatment risk of a patient is reduced.

The present application relates to the technical field of stem cells, in particular to a lentivirus envelope plasmid combination and application thereof, a lentivirus and a packaging method and a method for transducing hematopoietic stem cells. The present application provides an envelope plasmid combination for lentivirus packaging, which is composed of lentivirus packaging plasmids containing VSVG glycoprotein and lentivirus packaging plasmids containing BaEV glycoprotein in a ratio of 3:7; further provided is a method for transducing hematopoietic stem cells with lentivirus, which is simple to operate, can maintain the long-term stemness of hematopoietic stem cells in vitro, can realize efficient and stable transduction of hematopoietic stem cells, and the transduction rate is greater than 90%. The hematopoietic stem cells transduced by the lentivirus transduction method of the present application can be used for hematopoietic stem cell gene therapy of hematopoietic system genetic diseases, such as severe combined immunodeficiency, beta-thalassemia and sickle cell disease, Wiskott-Aldrich syndrome, and has a good application prospect.

The invention provides novel application of gypenoside A. Verification shows that the gypenoside A can improve problems caused by cell iron ion accumulation by improving the level of cell iron metabolism related protein, and can be used for preparing medicines for treating diseases caused by iron metabolism disorder, such as neurodegenerative diseases, thalassemia and hemochromia.

The invention discloses a thalassemia treatment method based on a stem cell technology and application. The thalassemia treatment method comprises the following steps: collecting a peripheral blood sample of a patient, and carrying out stem cell isolated culture; constructing a nucleic acid aptamer by combining a vascular cell adhesion molecule-1 and a stromal cell-derived factor-1 in a bone marrow microenvironment; connecting a nucleic acid aptamer, a cell adhesion promoting peptide and a stem cell growth factor, and constructing a homing guiding reagent; preparing nano liposome and nano polymer particles; the nucleic acid aptamer is connected to the surfaces of the nano-liposome and the nano-polymer particles, and is grafted with a temperature-responsive material to obtain the nano-carrier with a responsive release function; stem cell growth factors and platelet-derived growth factors are mixed with gelatin microspheres to form a slow release system; the cultured stem cells are mixed with a homing guide reagent, a nano-carrier and a slow release system, and are transplanted into the body of a patient through intramedullary injection. The stem cell homing efficiency can be improved, and the treatment effect on thalassemia is improved.

Disclosed herein are methods of expanding hematopoietic stem cells (HSC) ex vivo and their uses thereof, the methods comprising administrating a radical trapping antioxidant (RTA) to the HSC isolated from a subject, wherein the RTA blocks ferroptosis in the HSC and increases HSC expansion. Also disclosed herein are methods of treating blood disorders, such as, for example, sickle cell disease or β-thalassemia. Further disclosed is a kit for use of HSC expansion.

The present disclosure relates to compositions and methods of increasing levels of fetal hemoglobin (HbF) in cells. The present disclosure further relates to methods for treating patients suffering from blood cell diseases, including those associated with reduced amounts of functional adult hemoglobin (HbA), such as sickle cell disease and β-thalassemias

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.

Provided are an anti-human CD117 nanobody and use thereof. The nanobody comprises at least one VHH chain. The VHH chain comprises a CDR1, a CDR2, and a CDR3. The amino acid sequence of the CDR1 is set forth in SEQ ID NO: 4, the amino acid sequence of the CDR2 is set forth in SEQ ID NO: 5, and the amino acid sequence of the CDR3 is set forth in SEQ ID NO: 6; or the amino acid sequence of the CDR1 is set forth in SEQ ID NO: 7, the amino acid sequence of the CDR2 is set forth in SEQ ID NO: 8, and the amino acid sequence of the CDR3 is set forth in SEQ ID NO: 9; or the amino acid sequence of the CDR1 is set forth in SEQ ID NO: 10, the amino acid sequence of the CDR2 is set forth in SEQ ID NO: 11, and the amino acid sequence of the CDR3 is set forth in SEQ ID NO: 12. The use is use of the nanobody and a formulation thereof in the preparation of a drug for treating thalassemia. The nanobody has a good binding ability to CD117, and has the advantages of small molecular weight, high binding activity, low immunogenicity, easy modification, etc.

The subject matter described herein is directed to ferroportin inhibitor compounds of Formula I and pharmaceutical salts thereof, methods of preparing the compounds, pharmaceutical compositions comprising the compounds, and methods of administering the compounds for prophylaxis and / or treatment of diseases caused by a lack of hepcidin or iron metabolism disorders, particularly iron overload states, such as thalassemia, sickle cell disease and hemochromatosis, and also kidney injuries.

The present invention relates to a novel process for the preparation of compounds of formula (I) and pharmaceutically acceptable salts thereof, which are suitable for use as drugs for the prevention and / or treatment of diseases caused by hepcidin deficiency or iron metabolism disorders leading to increased iron levels or increased iron absorption, including iron overload, thalassemia, sickle cell disease and hemochromatosis.

The invention relates to a new process for preparing compounds of the formula (I) and pharmaceutically acceptable salts thereof, which act as ferroportin inhibitors being suitable for the use as medicaments in the prophylaxis and / or treatment of diseases caused by a lack of hepcidin or of iron metabolism disorders leading to increased iron levels or increased iron absorption, including iron overload, thalassemia, sickle cell disease and hemochromatosis.

In the present invention, we identified the hepatokine FGL1 as a previously unreported hepcidin suppressor that is highly induced in the liver in response to hypoxia during recovery from anemia and in thalassemia mice. We demonstrated that FGL1 is a potent suppressor of hepcidin in vitro and in vivo. Deficiency of Fgl1 in mice (Fgl1- / -) results in lower hepcidin repression after hemorrhage. Finally, we clearly demonstrated that FGL1 is a BMP antagonist that directly binds to BMP6 and impairs the canonical BMP-SMAD signaling cascade that controls hepcidin regulation. Therefore, the present invention relates to methods for preventing or treating iron overload-related diseases by targeting the hepatokine FGL1, a novel hepcidin repressor.

The invention discloses a diketopiperazine ferroptosis inhibitor as well as a preparation method and application thereof, and cell experiments and animal experiments prove that the diketopiperazine ferroptosis inhibitor has a good inhibition effect on ferroptosis and can be used for preparing the ferroptosis inhibitor. The compound can be used for preparing drugs for treating genetic blood diseases such as thalassemia and the like or diseases related to iron overload and ferroptosis, and meanwhile, the synthesized compound has good safety and wide market prospects.

Anemia, defined as a reduction in the amount of functional red blood cells in circulation, is a major cause of disease affecting one-third of the world's population. Iron is essential for hemoglobin, the functional component of red blood cells, to store and transport oxygen. Hepcidin, a liver-derived peptide, is a key regulator of iron homeostasis. During anemia, the erythropoietic hormone erythroferon regulates hepcidin synthesis to ensure an adequate supply of iron to the bone marrow for red blood cell synthesis. However, accumulating evidence suggests that other factors may perform a similar function. We identified the hepatokine FGL1 as a previously undescribed hepcidin suppressor that is highly induced in the liver in response to hypoxia during recovery from anemia and in thalassemia mice. We demonstrated that FGL1 is a potent hepcidin suppressor in vitro and in vivo. Deletion of Fgl1 in mice blunts hepcidin suppression after hemorrhage.Finally, FGL1 is a BMP antagonist that directly binds to BMP6 and impairs the BMP-SMAD signaling cascade that controls hepcidin regulation.Therefore, the present invention relates to an FGL1 polypeptide for use in treating patients suffering from iron deficiency-related diseases.

The present invention relates to compositions and methods of increasing levels of fetal hemoglobin (HbF) in cells. The present invention further relates to methods for treating patients suffering from blood cell diseases, including those associates with reduced amounts of functional adult hemoglobin (HbA), such as sickle cell disease and β-thalassemias.

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.

Disclosed is a method of using Netrin-1 (NTN1) driven rejuvenation of an aged hematopoietic system based on its shown dependency of reestablishing integrity of aged bone marrow niche and reactivating DNA damage response (DDR). NTN1 is shown as a master regulator of reactivating DNA damage response (DDR) pathways. Every organ / tissue accumulates DNA damage that is an underlying cause of diseases. Reactivating DDR has an extensive effect on treating diseases. NTN1 serves as a therapeutic modality that effectively reverses age-related hematopoietic deficiencies while simultaneously targeting growth and survival of acute myelogenous leukemia (AML). The ability to target and gene correct hematopoietic stem cells (HSC) ex vivo for the treatment of hemoglobinopathies, like thalassemia and sickle cell anemia, is limited due to inability of transducing the correct cell population. NTN1 is shown to maintain and expand bona fide HSCs, opening up the possibility to transduce a true stem cell overcoming previous limitations.

The present invention relates to the use of sulforaphane as an inhibitor of NLRP1 and of inflammasomes comprising NLRP1 as a sensor protein, and to the use thereof as a drug for treating and / or preventing diseases characterised by the activation of inflammasomes comprising NLRP1 as a sensor protein. Specifically, the use of sulforaphane for treating thalassemia and sideroblastic anemia is described.