A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
96 compound(s) have been researched along with alpha-Thalassemia
128 drug roles or functions have been studied along with alpha-Thalassemia
| Drug Role | Role Definition | Studies |
|---|---|---|
| acid-base indicator | An acid or base which exhibits a colour change on neutralization by the basic or acidic titrant at or near the equivalence point of a titration. | 2 |
| adrenergic agent | Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. | 2 |
| algal metabolite | Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. | 12 |
| alkylating agent | Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. | 1 |
| angiogenesis inhibitor | An agent and endogenous substances that antagonize or inhibit the development of new blood vessels. | 1 |
| anti-allergic agent | A drug used to treat allergic reactions. | 1 |
| anti-asthmatic drug | A drug used to treat asthma. | 1 |
| anti-inflammatory drug | A substance that reduces or suppresses inflammation. | 4 |
| antiamoebic agent | An antiparasitic agent which is effective against amoeba, a genus of single-celled amoeboids in the family Amoebidae. | 1 |
| antiatherogenic agent | A cardiovascular drug that prevents atherogenesis, the accumulation of lipid-containing plaques on the innermost layers of the arteries. Compare with antiatherosclerotic agent. | 1 |
| antibacterial agent | A substance (or active part thereof) that kills or slows the growth of bacteria. | 1 |
| antibacterial drug | A drug used to treat or prevent bacterial infections. | 3 |
| anticoagulant | An agent that prevents blood clotting. | 2 |
| anticonvulsant | A drug used to prevent seizures or reduce their severity. | 1 |
| anticoronaviral agent | Any antiviral agent which inhibits the activity of coronaviruses. | 1 |
| antidepressant | Antidepressants are mood-stimulating drugs used primarily in the treatment of affective disorders and related conditions. | 1 |
| antidote to cyanide poisoning | A role borne by a molecule that acts to counteract or neutralize the deleterious effects of cyanide. | 1 |
| antidote to paracetamol poisoning | A role borne by a molecule that acts to counteract or neutralize the deleterious effects of paracetamol (acetaminophen). | 1 |
| antifungal agent | An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. | 1 |
| antihypertensive agent | Any drug used in the treatment of acute or chronic vascular hypertension regardless of pharmacological mechanism. | 2 |
| antiinfective agent | A substance used in the prophylaxis or therapy of infectious diseases. | 1 |
| antimalarial | A drug used in the treatment of malaria. Antimalarials are usually classified on the basis of their action against Plasmodia at different stages in their life cycle in the human. | 4 |
| antimetabolite | A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. | 1 |
| antimicrobial agent | A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. | 1 |
| antimicrobial food preservative | A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). | 1 |
| antineoplastic agent | A substance that inhibits or prevents the proliferation of neoplasms. | 7 |
| antioxidant | A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. | 2 |
| antiparasitic agent | A substance used to treat or prevent parasitic infections. | 1 |
| antirheumatic drug | A drug used to treat rheumatoid arthritis. | 1 |
| antitubercular agent | A substance that kills or slows the growth of Mycobacterium tuberculosis and is used in the treatment of tuberculosis. | 2 |
| antiviral agent | A substance that destroys or inhibits replication of viruses. | 1 |
| antiviral drug | A substance used in the prophylaxis or therapy of virus diseases. | 1 |
| Arabidopsis thaliana metabolite | Any plant metabolite that is produced by Arabidopsis thaliana. | 1 |
| autophagy inhibitor | Any compound that inhibits the process of autophagy (the self-digestion of one or more components of a cell through the action of enzymes originating within the same cell). | 1 |
| bacterial metabolite | Any prokaryotic metabolite produced during a metabolic reaction in bacteria. | 1 |
| beta-adrenergic antagonist | An agent that binds to but does not activate beta-adrenergic receptors thereby blocking the actions of endogenous or exogenous beta-adrenergic agonists. beta-Adrenergic antagonists are used for treatment of hypertension, cardiac arrhythmias, angina pectoris, glaucoma, migraine headaches and anxiety. | 1 |
| biomarker | A substance used as an indicator of a biological state. | 3 |
| bronchoconstrictor agent | A drug which causes a narrowing of the lumen of a bronchus or bronchiole. | 1 |
| bronchodilator agent | An agent that causes an increase in the expansion of a bronchus or bronchial tubes. | 1 |
| carcinogenic agent | A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. | 3 |
| cardioprotective agent | Any protective agent that is able to prevent damage to the heart. | 1 |
| coenzyme | A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. | 1 |
| cofactor | An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). | 1 |
| compatible osmolytes | null | 1 |
| Daphnia magna metabolite | A Daphnia metabolite produced by the species Daphnia magna. | 1 |
| dermatologic drug | A drug used to treat or prevent skin disorders or for the routine care of skin. | 2 |
| diagnostic agent | A substance administered to aid diagnosis of a disease. | 1 |
| DNA synthesis inhibitor | Any substance that inhibits the synthesis of DNA. | 1 |
| drug allergen | Any drug which causes the onset of an allergic reaction. | 3 |
| drug metabolite | null | 1 |
| EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor | An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11). | 1 |
| EC 1.14.13.39 (nitric oxide synthase) inhibitor | An EC 1.14.13.* (oxidoreductase acting on paired donors, incorporating 1 atom of oxygen, with NADH or NADPH as one donor) inhibitor that interferes with the action of nitric oxide synthase (EC 1.14.13.39). | 1 |
| EC 1.3.1.43 (arogenate dehydrogenase) inhibitor | An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43). | 1 |
| EC 1.3.98.1 [dihydroorotate oxidase (fumarate)] inhibitor | An EC 1.3.98.* (oxidoreductase acting on CH-CH group of donors, with other, known, acceptors) inhibitor that interferes with the action of dihydroorotate oxidase (fumarate), EC 1.3.98.1 (formerly EC 1.3.3.1). | 1 |
| EC 1.4.3.4 (monoamine oxidase) inhibitor | An EC 1.4.3.* (oxidoreductase acting on donor CH-NH2 group, oxygen as acceptor) inhibitor that interferes with the action of monoamine oxidase (EC 1.4.3.4). | 1 |
| EC 1.9.3.1 (cytochrome c oxidase) inhibitor | An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1). | 1 |
| EC 2.7.11.13 (protein kinase C) inhibitor | An EC 2.7.11.* (protein-serine/threonine kinase) inhibitor that interferes with the action of protein kinase C (EC 2.7.11.13). | 1 |
| EC 2.7.7.6 (RNA polymerase) inhibitor | An EC 2.7.7.* (nucleotidyltransferase) inhibitor that interferes with the action of RNA polymerase (EC 2.7.7.6). | 1 |
| EC 3.1.1.8 (cholinesterase) inhibitor | An EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that interferes with the action of cholinesterase (EC 3.1.1.8). | 1 |
| EC 3.1.3.1 (alkaline phosphatase) inhibitor | An EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of alkaline phosphatase (EC 3.1.3.1). | 1 |
| EC 3.1.3.16 (phosphoprotein phosphatase) inhibitor | Any EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor that interferes with the action of phosphoprotein phosphatase (EC 3.1.3.16). | 1 |
| EC 4.6.1.2 (guanylate cyclase) inhibitor | An EC 4.6.* (P-O lyase) inhibitor that interferes with the action of enzyme guanylate cyclase (EC 4.6.1.2). | 2 |
| emetic | Any agent that induces nausea and vomiting. | 1 |
| environmental contaminant | Any minor or unwanted substance introduced into the environment that can have undesired effects. | 2 |
| epitope | The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. | 1 |
| Escherichia coli metabolite | Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. | 20 |
| ferroptosis inducer | Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. | 1 |
| ferroptosis inhibitor | Any substance that inhibits the process of ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. | 1 |
| flame retardant | Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. | 1 |
| flour treatment agent | A food additive which is added to flour or dough to improve baking quality and/or colour. | 1 |
| fluorescent dye | null | 1 |
| fluorochrome | A fluorescent dye used to stain biological specimens. | 2 |
| food antioxidant | An antioxidant that used as a food additives to help guard against food deterioration. | 2 |
| food colour retention agent | A food additive that intensifies, retains or stabilises the colour of a food. | 1 |
| food packaging gas | A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. | 1 |
| fundamental metabolite | Any metabolite produced by all living cells. | 2 |
| geroprotector | Any compound that supports healthy aging, slows the biological aging process, or extends lifespan. | 2 |
| hapten | Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. | 1 |
| hematologic agent | Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. | 1 |
| hepatoprotective agent | Any compound that is able to prevent damage to the liver. | 1 |
| hepatotoxic agent | A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals. | 1 |
| histological dye | A dye used in microscopic or electron microscopic examination of cells and tissues to give contrast and to highlight particular features of interest, such as nuclei and cytoplasm. | 2 |
| HIV protease inhibitor | An inhibitor of HIV protease, an enzyme required for production of proteins needed for viral assembly. | 1 |
| HIV-1 reverse transcriptase inhibitor | An entity which inhibits the activity of HIV-1 reverse transcriptase. | 1 |
| human metabolite | Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). | 18 |
| human xenobiotic metabolite | Any human metabolite produced by metabolism of a xenobiotic compound in humans. | 1 |
| immunomodulator | Biologically active substance whose activity affects or plays a role in the functioning of the immune system. | 1 |
| immunosuppressive agent | An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. | 4 |
| indicator | Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. | 1 |
| iron chelator | null | 2 |
| keratolytic drug | A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases. | 1 |
| leprostatic drug | A substance that suppresses Mycobacterium leprae, ameliorates the clinical manifestations of leprosy, and/or reduces the incidence and severity of leprous reactions. | 1 |
| ligand | Any molecule or ion capable of binding to a central metal atom to form coordination complexes. | 1 |
| macronutrient | Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. | 2 |
| metabolite | Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. | 2 |
| micronutrient | Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. | 17 |
| mitochondrial respiratory-chain inhibitor | null | 2 |
| mouse metabolite | Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). | 23 |
| mutagen | An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. | 1 |
| neuroprotective agent | Any compound that can be used for the treatment of neurodegenerative disorders. | 2 |
| neurotoxin | A poison that interferes with the functions of the nervous system. | 1 |
| neurotransmitter | An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. | 4 |
| non-steroidal anti-inflammatory drug | An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. | 1 |
| nutraceutical | A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. | 13 |
| nutrient | A nutrient is a food component that an organism uses to survive and grow. | 1 |
| oxidising agent | A substance that removes electrons from another reactant in a redox reaction. | 1 |
| P450 inhibitor | An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances. | 1 |
| photosensitizing agent | A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. | 1 |
| physical tracer | A physical tracer is one that is attached by physical means to the object being traced. | 1 |
| plant hormone | A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. | 1 |
| plant metabolite | Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. | 12 |
| poison | Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. | 1 |
| pregnane X receptor agonist | An agonist that selectively binds to and activates a pregnane X receptor. | 1 |
| probe | A role played by a molecular entity used to study the microscopic environment. | 1 |
| prodrug | A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. | 3 |
| protective agent | Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. | 1 |
| protein synthesis inhibitor | A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. | 1 |
| pyrimidine synthesis inhibitor | A pathway inhibitor that inhibits the synthesis of pyrimidine. | 1 |
| radical scavenger | A role played by a substance that can react readily with, and thereby eliminate, radicals. | 1 |
| reagent | A substance used in a chemical reaction to detect, measure, examine, or produce other substances. | 1 |
| Saccharomyces cerevisiae metabolite | Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). | 14 |
| siderophore | Any of low-molecular-mass iron(III)-chelating compounds produced by microorganisms for the purpose of the transport and sequestration of iron. | 1 |
| signalling molecule | A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. | 2 |
| skin lightening agent | Any cosmetic used to lighten the colour of skin by reducing the concentration of melanin. | 1 |
| two-colour indicator | A colour indicator that possesses a different colour on each side of the transition interval. | 1 |
| tyrosine kinase inhibitor | Any protein kinase inhibitor that interferes with the action of tyrosine kinase. | 1 |
| vasodilator agent | A drug used to cause dilation of the blood vessels. | 3 |
| xenobiotic | A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. | 2 |
0 protein target(s) studied along with alpha-Thalassemia
| Article |
|---|
A novel ATRX variant with splicing consequences in myelodysplastic syndrome with acquired alpha thalassaemia.
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Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.
Identification of rare thalassemia variants requires a combination of multiple diagnostic technologies.. To investigate a new approach of comprehensive analysis of thalassemia alleles based on third-generation sequencing (TGS) for identification of α- and β-globin gene variants.. Enrolled in this study were 70 suspected carriers of rare thalassemia variants. Routine gap-polymerase chain reaction and DNA sequencing were used to detect rare thalassemia variants, and TGS technology was performed to identify α- and β-globin gene variants.. Twenty-three cases that carried rare variants in α- and β-globin genes were identified by the routine detection methods. TGS technology yielded a 7.14% (5 of 70) increment of rare α- and β-globin gene variants as compared with the routine methods. Among them, the rare deletional genotype of -THAI was the most common variant. In addition, rare variants of CD15 (G>A) (HBA2:c.46G>A), CD117/118(+TCA) (HBA1:c.354_355insTCA), and β-thalassemia 3.5-kilobase gene deletion were first identified in Fujian Province, China; to the best of our knowledge, this is the second report in the Chinese population. Moreover, HBA1:c.-24C>G, IVS-II-55 (G>T) (HBA1:c.300+55G>T) and hemoglobin (Hb) Maranon (HBA2:c.94A>G) were first identified in the Chinese population. We also identified rare Hb variants of HbC, HbG-Honolulu, Hb Miyashiro, and HbG-Coushatta in this study.. TGS technology can effectively and accurately detect deletional and nondeletional thalassemia variants simultaneously in one experiment. Our study also demonstrated the application value of TGS-based comprehensive analysis of thalassemia alleles in the detection of rare thalassemia gene variants. |
High accuracy of single-molecule real-time sequencing in detecting a rare α-globin fusion gene in carrier screening population.
The α-globin fusion gene between the HBA2 and HBAP1 genes becomes clinically important in thalassemia screening because this fusion gene can cause severe hemoglobin (Hb) H disease when combining with α. In this study, we used the single-molecule real-time (SMRT) sequencing technique to detect this fusion gene in 23 carriers identified by next-generation sequencing (NGS) among 16,504 screened individuals. Five primers for α and β thalassemia were utilized.. According to the NGS results, the 23 carriers include 14 pure heterozygotes, eight compound heterozygotes with common α-thal alleles, and one homozygote. By using SMRT, the fusion mutant was successfully detected in all 23 carriers. Furthermore, SMRT corrected the diagnosis in two "pure" heterozygotes: one was compound heterozygote with anti-3.7 triplication, and the other was homozygote.. Our results indicate that SMRT is a superior method compared to NGS in detecting the α fusion gene, attributing to its efficient, accurate, and one-step properties. |
Application of the Single-Molecule Real-Time Technology (SMRT) for Identification of HKαα Thalassemia Allele.
Single-molecule real-time technology (SMRT) is a sequencing technology using the DNA polymerases and fluorescently tagged nucleotides to accurately sequence DNA strands. The purpose of this study was to evaluate the detection accuracy of SMRT for identification of the Hong Kongαα (HKαα) thalassemia allele.. We conducted a blinded study of 33 samples of known HKαα alleles. These alleles were detected using SMRT to evaluate accuracy.. We conducted a blinded study of 33 known HKαα samples and found all HKαα variants detected by SMRT to be concordant with those independently assigned by gap-polymerase chain reaction (gap-PCR), reverse dot blot hybridization, and 2-round nested PCR. In addition, SMRT detected 2 β-thalassemia variants that were missed by conventional techniques.. The results demonstrate that SMRT offers a higher detection accuracy of thalassemia rare and new loci. It is an efficient, reliable, and broad-spectrum test that can be widely used for thalassemia screening in the clinic. |
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry.
Alpha thalassemia major (ATM) is a hemoglobinopathy that usually results in perinatal demise if in utero transfusions (IUTs) are not performed. We established an international registry (NCT04872179) to evaluate the impact of IUTs on survival to discharge (primary outcome) as well as perinatal and neurodevelopmental secondary outcomes. Forty-nine patients were diagnosed prenatally, 11 were diagnosed postnatally, and all 11 spontaneous survivor genotypes had preserved embryonic zeta-globin levels. We compared 3 groups of patients; group 1, prenatally diagnosed and alive at hospital discharge (n = 14), group 2, prenatally diagnosed and deceased perinatally (n = 5), and group 3, postnatally diagnosed and alive at hospital discharge (n = 11). Group 1 had better outcomes than groups 2 and 3 in terms of the resolution of hydrops, delivery closer to term, shorter hospitalizations, and more frequent average or greater neurodevelopmental outcomes. Earlier IUT initiation was correlated with higher neurodevelopmental (Vineland-3) scores (r = -0.72, P = .02). Preterm delivery after IUT was seen in 3/16 (19%) patients who continued their pregnancy. When we combined our data with those from 2 published series, patients who received ≥2 IUTs had better outcomes than those with 0 to 1 IUT, including resolution of hydrops, delivery at ≥34 weeks gestation, and 5-minute appearance, pulse, grimace, activity, and respiration scores ≥7. Neurodevelopmental assessments were normal in 17/18 of the ≥2 IUT vs 5/13 of the 0 to 1 IUT group (OR 2.74; P = .01). Thus, fetal transfusions enable the survival of patients with ATM and normal neurodevelopment, even in those patients presenting with hydrops. Nondirective prenatal counseling for expectant parents should include the option of IUTs. |
Multicenter clinical radiomics-integrated model based on [
One hundred and two patients (47 ATRX mutant-type, 55 ATRX wild-type) diagnosed with IDH-mutant LGGs (CNS WHO grades 1 and 2) were retrospectively enrolled. A total of 5540 radiomics features were extracted from structural MR (sMR) images (contrast-enhanced T1-weighted imaging, CE-T1WI; T2-weighted imaging, and T2WI), functional MR (fMR) images (apparent diffusion coefficient, ADC; cerebral blood volume, CBV), and metabolic PET images ([. The optimal multi-modal model incorporated sMR (CE-T1WI), fMR (ADC), and metabolic ([. The clinical radiomics-integrated model with metabolic, structural, and functional information based on [. • The clinical radiomics-integrated model based on [ |
One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve.
Alpha-thalassaemia is one of the most common monogenic disorders worldwide. Due to high guanine-cytosine (GC) content and high mutation diversity in α-globin gene cluster, deletional and non-deletional mutations were usually separately detected with different methods. The aim of this study was to develop a novel one-step method for α-thalassaemia genotyping.. A multiplex symmetric PCR melting curve strategy was designed for one-step α-thalassaemia genotyping. Based on this strategy, a novel method was developed to simultaneously detect four common deletional (. All nine α-thalassaemia mutations could be accurately identified by this novel method within 3 hours. The evaluation results also showed a 100% concordance with comparison methods.. This method is rapid, accurate, low-cost and easy to operate, which can be used for molecular screening and genetic diagnosis of α-thalassaemia in clinical practice. The multiplex symmetric PCR melting curve strategy designed in this study can also provide an effective approach to the method development for high GC content templates and multiple mutations. |
Quantification of human embryonic ζ-globin chains in Southeast Asian deletion (--
Reactivation of embryonic ζ-globin is a promising strategy for genetic treatment of α-thalassaemia. However, quantification of ζ-globin as a quantitative trait in α-thalassaemia carriers and patients remains incompletely understood. In this study, we aimed to set up a reliable approach for the quantification of ζ-globin in α-thalassaemia carriers, followed by a population study to investigate its expression patterns. |
Fetal Cardiac Inflow Characteristics in Response to Fetal Anemia: Based on Fetal Hemoglobin Bart's Disease at Mid-Pregnancy.
To identify the inflow (filling time fraction [FTF] and E/A ratio) characteristics of fetuses with anemia, and to evaluate the performance of the inflow markers in predicting the affected fetuses.. Fetuses at risk of hemoglobin (Hb) Bart's disease at 17-22 weeks were prospectively recruited to undergo echocardiography before diagnostic cordocentesis. Cardiac Doppler images were digitally stored for off-line blinded measurements of FTF and E/A ratio.. A total of 428 fetuses at risk of Hb Bart's disease were analyzed, including 88 affected fetuses (20.6%). The mean gestational age at the time of diagnosis was 19.43 ± 1.5 weeks. The FTFs in both sides were significantly lower in the affected fetuses, whereas the E/A ratios of both sides were significantly higher in the affected group. According to the receiver operating characteristic curves, the performance of the FTF of the right side in predicting affected fetuses was slightly better than that of the left side (area under curve: 0.707 versus 0.680, P < .001). Likewise, the performance of the E/A ratio of the tricuspid valve was slightly better than that of the mitral valve. Also, FTF was superior to E/A ratio in predicting the affected fetuses.. New insights leading to a better understanding of the fetal cardiac response to anemia are: 1) the FTFs in both sides were significantly decreased, suggesting some degree of diastolic ventricular dysfunction; 2) the E/A ratios of both sides were significantly increased, indicating volume load; and 3) The inflow parameters may be useful as a new predictor of fetal anemia, especially among pregnancies at risk. |
Fetal Hemodynamic Response to Anemia in Early Gestation: Using Hemoglobin Bart's Disease as a Study Model.
To assess fetal hemodynamic changes in response to anemia in early gestation, using fetal Hb Bart's disease as a study model.. A prospective study was conducted on pregnancies at risk for fetal Hb Bart's disease at 12-14 weeks of gestation. Fetal hemodynamics were comprehensively assessed by 2D ultrasound, Doppler velocity, and cardio-STIC just prior to the invasive procedure for diagnosis. The various hemodynamic parameters of the affected and unaffected fetuses were compared.. Of 56 fetuses at risk, 17 had Hb Bart's disease and 39 were unaffected. The right and combined ventricular cardiac outputs (CO) were significantly higher in the affected fetuses (0.993 vs. 1.358; p < 0.001 and 1.010 vs. 1.236; p < 0.001, respectively), whereas the left CO tended to be higher but not significantly (1.027 vs. 1.113; p = 0.058). Cardiac dimensions, middle-cerebral artery peak systolic velocity, Tei index, and isovolemic contraction time were significantly increased, while the global sphericity index was significantly decreased. Interestingly, cardiac preload, ventricular wall thickness, shortening fraction, isovolemic relaxation time, and fetal heart rate were unchanged. Four fetuses had hydropic changes, but all cardiac functions were normal.. Fetal anemia induces hypervolemia and increases cardiac output to meet the tissue oxygen requirement, resulting in an increase in size without hypertrophy, volume load without pressure load, and a decrease in the globular sphericity index. The heart works very well but works harder, especially systolic ventricular load. Hydrops fetalis due to anemia appears not to be caused by heart failure as previously believed but rather by volume load with high vascular permeability at least in early pregnancy.. ZIEL: Bewertung der fetalen hämodynamischen Veränderungen als Reaktion auf Anämie in der Frühschwangerschaft unter Verwendung des Hb-Bart’s-Hydrops-fetalis-Syndroms als Studienmodell.. Eine prospektive Studie wurde an Schwangerschaften mit Risiko für Hb-Bart’s-Hydrops-fetalis-Syndrom in der 12.–14. Schwangerschaftswoche durchgeführt. Die fetale Hämodynamik wurde unmittelbar vor der invasiven Diagnostik umfassend mittels 2D-Ultraschall, Doppler-Flussgeschwindigkeit und Kardio-STIC beurteilt. Die verschiedenen hämodynamischen Parameter der betroffenen und nichtbetroffenen Föten wurden verglichen.. Von 56 Risikoföten hatten 17 ein Hb-Bart’s-Hydrops-fetalis-Syndrom und 39 waren nicht betroffen. Das rechte und das kombinierte ventrikuläre Herzzeitvolumen (CO) waren bei den betroffenen Föten signifikant höher (0,993 vs. 1,358; p < 0,001 bzw. 1,010 vs. 1,236; p < 0,001), während das linke CO tendenziell höher war, aber nicht signifikant (1,027 vs. 1,113; p = 0,058). Die kardialen Dimensionen, die maximale systolische Flussgeschwindigkeit der A. cerebri media, der Tei-Index und die isovolämische Kontraktionszeit waren signifikant erhöht, während der globale Sphärizitätsindex signifikant verringert war. Interessanterweise waren die kardiale Vorlast, die ventrikuläre Wandstärke, die Verkürzungsfraktion, die isovolämische Relaxationszeit und die fetale Herzfrequenz unverändert. Vier Föten hatten hydropische Veränderungen, aber alle Herzfunktionen waren normal.. Die fetale Anämie induziert eine Hypervolämie und erhöht das Herzzeitvolumen, um den Sauerstoffbedarf des Gewebes zu decken. Dies führt zu einer Größenzunahme ohne Hypertrophie, einer Volumenbelastung ohne Druckbelastung und einer Abnahme des globalen Sphärizitätsindex. Das Herz arbeitet sehr gut, aber es arbeitet härter, insbesondere die systolische ventrikuläre Belastung. Der Anämie-bedingte Hydrops fetalis scheint nicht, wie bisher angenommen, durch Herzinsuffizienz verursacht zu werden, sondern durch Volumenbelastung mit hoher Gefäßpermeabilität zumindest in der Frühschwangerschaft. |