Hemoglobin A2
Globins
Thalassemia
Reticulocytes
Leukemia, Erythroblastic, Acute
beta-Globins
alpha-Globins
Receptors, Opioid, delta
Hemoglobins
alpha-Thalassemia
Hemoglobinopathies
beta-Thalassemia
Origin and ascendancy of a chimeric fusion gene: the beta/delta-globin gene of paenungulate mammals. (1/8)
(+info)Association between transcriptional activity, local chromatin structure, and the efficiencies of both subpathways of nucleotide excision repair of melphalan adducts. (2/8)
(+info)First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA(2)-NYU in Iran. (3/8)
(+info)Recombinant erythroid Kruppel-like factor fused to GATA1 up-regulates delta- and gamma-globin expression in erythroid cells. (4/8)
(+info)Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans. (5/8)
(+info)Estimation of the difference in HbF expression due to loss of the 5' delta-globin BCL11A binding region. (6/8)
(+info)Evolutionary constraints in the beta-globin cluster: the signature of purifying selection at the delta-globin (HBD) locus and its role in developmental gene regulation. (7/8)
(+info)In vivo activation of the human delta-globin gene: the therapeutic potential in beta-thalassemic mice. (8/8)
(+info)Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.
Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.
It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.
Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.
Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.
There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.
Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.
Reticulocytes are immature red blood cells that still contain remnants of organelles, such as ribosomes and mitochondria, which are typically found in developing cells. These organelles are involved in the process of protein synthesis and energy production, respectively. Reticulocytes are released from the bone marrow into the bloodstream, where they continue to mature into fully developed red blood cells called erythrocytes.
Reticulocytes can be identified under a microscope by their staining characteristics, which reveal a network of fine filaments or granules known as the reticular apparatus. This apparatus is composed of residual ribosomal RNA and other proteins that have not yet been completely eliminated during the maturation process.
The percentage of reticulocytes in the blood can be used as a measure of bone marrow function and erythropoiesis, or red blood cell production. An increased reticulocyte count may indicate an appropriate response to blood loss, hemolysis, or other conditions that cause anemia, while a decreased count may suggest impaired bone marrow function or a deficiency in erythropoietin, the hormone responsible for stimulating red blood cell production.
Erythroblastic Leukemia, Acute (also known as Acute Erythroid Leukemia or AEL) is a subtype of acute myeloid leukemia (AML), which is a type of cancer affecting the blood and bone marrow. In this condition, there is an overproduction of erythroblasts (immature red blood cells) in the bone marrow, leading to their accumulation and interference with normal blood cell production. This results in a decrease in the number of functional red blood cells, white blood cells, and platelets in the body. Symptoms may include fatigue, weakness, frequent infections, and easy bruising or bleeding. AEL is typically treated with chemotherapy and sometimes requires stem cell transplantation.
Beta-globins are the type of globin proteins that make up the beta-chain of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four polypeptide chains, two alpha-globin and two beta-globin chains, arranged in a specific structure. The beta-globin gene is located on chromosome 11, and mutations in this gene can lead to various forms of hemoglobin disorders such as sickle cell anemia and beta-thalassemia.
Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.
Opioid delta receptors, also known as delta opioid receptors (DORs), are a type of G protein-coupled receptor found in the nervous system and other tissues throughout the body. They belong to the opioid receptor family, which includes mu, delta, and kappa receptors. These receptors play an essential role in pain modulation, reward processing, and addictive behaviors.
Delta opioid receptors are activated by endogenous opioid peptides such as enkephalins and exogenous opioids like synthetic drugs. Once activated, they trigger a series of intracellular signaling events that can lead to inhibition of neuronal excitability, reduced neurotransmitter release, and ultimately, pain relief.
Delta opioid receptors have also been implicated in various physiological processes, including immune function, respiratory regulation, and gastrointestinal motility. However, their clinical use as therapeutic targets has been limited due to the development of tolerance and potential adverse effects such as sedation and respiratory depression.
In summary, delta opioid receptors are a type of opioid receptor that plays an essential role in pain modulation and other physiological processes. They are activated by endogenous and exogenous opioids and trigger intracellular signaling events leading to various effects, including pain relief. However, their clinical use as therapeutic targets is limited due to potential adverse effects.
Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.
There are several types of hemoglobin present in the human body, including:
* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.
Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.
Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.
There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.
Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.
Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.
Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.
In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.
Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.
Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.
Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.
Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.
There are two main types of beta-thalassemia:
1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.
Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.
Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).
Human β-globin locus - Wikipedia
Alpha Thalassemia: Practice Essentials, Pathophysiology, Etiology
What does my wife's Hb electrophoresis report indicate?
The Importance of Including Hemoglobinopathies as a Part of Carrier Screening Panels
IthaGenes
Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles - McMaster Experts
Pasteur Institute of Iran Biotechnology Research Center
Search for a Test by Disorder | Molecular Genetics Laboratory
Таласемії - Гематологія і онкологія - MSD Manual Professional Edition
Beta-thalassemia: Video, Anatomy, Definition & Function | Osmosis
Inclusion of Double Helix Structural Oligonucleotide (STexS) Results in an Enhance of SNP Specificity in PCR | Research Square
Genetic Control: Definition, Types, & Examples I BiologyBard
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease | Molecular Cytogenetics | Full Text
RCSB PDB - 1SI4: Crystal structure of Human hemoglobin A2 (in R2 state) at 2.2 A resolution
Dr DEEPAN P SHAH - MD(HOMOEOPATHY)
https://www.hematology.org/newsroom/press-releases/2017/ash-announces-top-trainee-abstracts-of-2017-ash-annual-meeting
Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin...
Human Genetics 12th Edition by Ricki Lewis -Test Bank
Characterization of an Indian (delta beta)0 thalassaemia - Radcliffe Department of Medicine
Thalassaemia
Pesquisa | Portal Regional da BVS
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Subiecte Fizio | PDF
Hemoglobin
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heme | Leaders in Pharmaceutical Business Intelligence (LPBI) Group
Carbon monoxide (EHC 13, 1979)
Genes29
- The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. (wikipedia.org)
- Many CRMs have been mapped within the cluster of genes encoding β-like globins expressed in embryonic (HBE1), fetal (HBG1 and HBG2), and adult (HBB and HBD) erythroid cells. (wikipedia.org)
- If the person has two mutated genes that code for reduced beta globin chain synthesis, then they're said to have beta thalassemia intermedia. (osmosis.org)
- Genes that regulate both the synthesis and the structure of different globins are organized into 2 separate clusters. (medscape.com)
- The alpha-globin genes are encoded on chromosome 16, and the gamma-, delta-, and beta-globin genes are encoded on chromosome 11. (medscape.com)
- Alpha thalassemia syndromes are caused by deficient expression of 1 or more of the 4 alpha-globin genes on chromosome 16 and are characterized by absent or reduced synthesis of alpha-globin chains. (medscape.com)
- however, their phenotypic expression may be described in simplified clinical terms related to the number of inherited alpha-globin genes. (medscape.com)
- Alpha thalassemias may be broadly classified according to whether the loss of alpha-globin genes is complete or partial-that is, alpha(0) thalassemia or alpha(+) thalassemia. (medscape.com)
- More than 20 different genetic mutations resulting in the functional deletion of both pairs of alpha-globin genes (--/--) have been identified. (medscape.com)
- There are more than 15 different genetic mutations that result in decreased production of alpha globin, usually through functional deletion of 1 or more of the 4 alpha-globin genes. (medscape.com)
- Persons who inherit 3 normal alpha-globin genes (-α/αα) are referred to clinically as silent carriers. (medscape.com)
- There are two beta globin genes, and patients may have heterozygous, homozygous, or compound heterozygous mutations. (msdmanuals.com)
- In addition, patients may be heterozygous or homozygous for abnormalities in 2 different globin genes (eg, beta and delta). (msdmanuals.com)
- For instance the genes for insulin in pancreas, genes for beta and alpha globins in RBC and genes for digestive enzymes. (biologybard.com)
- In case of humans, the cluster of beta-globin is found on chromosome 11 and comprise of 1 pseudogene and 5 active genes. (biologybard.com)
- Each of these active genes at a specfic developmental stage produces a beta-globin. (biologybard.com)
- The developmental order of these genes include epsilon, gamma-G, gamma-A, delta and beta. (biologybard.com)
- The LCR (Locus Control Region) is a regulatory site that activates these genes and this is also crucial to activate transcription of any of the beta-globin genes. (biologybard.com)
- a globin gene duplicates and gives rise to alpha and beta globin genes. (testbank.ltd)
- Starting 3 kilobases from the 3' end of the A gamma gene, the deletion removes the delta and beta globin genes and continues to an unknown extent in the 3' direction. (ox.ac.uk)
- [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (drpareshmajumder.com)
- GATA-1 [ 1 ] (also known as Eryf1, GF-1 or NF-E1), which binds to the GATA region of globin genes and other genes expressed in erythroid cells. (expasy.org)
- GATA-3 [ 3 ], a transcriptional activator which binds to the enhancer of the T-cell receptor α and delta genes. (expasy.org)
- When a gene or genes related to alpha globin protein are missing or changed (mutated). (netlify.app)
- Those that result in the functional depletion of both pair of α -globin genes Individuals with this disorder are not able to produce any functional α -globin and thus are unable to make any functional hemoglobin A, F, or A2. (netlify.app)
- Beta thalassemia is where there is a reduced formation of beta polypeptide chains because of mutations in the beta globin genes that occur on chromosome 11. (tutorialspoint.com)
- Causes and Risk Factors − This is inherited and is due to some type of genetic change (mutation) that has occurred in the beta globin genes. (tutorialspoint.com)
- Alpha thalassemia is caused by mutations in the genes that control the production of alpha globin, one of the two types of protein chains that make up hemoglobin. (tutorialspoint.com)
- There are four genes that control the production of alpha globin, and each person inherits two copies of these genes, one from each parent. (tutorialspoint.com)
Hemoglobin33
- They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
- The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
- Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
- With the thalassemias, there's either no globin protein being made, and globin is the protein part of hemoglobin, or there's a decrease in the amount made. (contemporaryobgyn.net)
- Beta thalassemia is a genetic disorder where there's a deficiency in production of the β-globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells - or RBCs for short. (osmosis.org)
- Normally, hemoglobin is made up of four globin chains, each bound to a heme group. (osmosis.org)
- These four globin chains combine in different ways to give rise to different kinds of hemoglobin. (osmosis.org)
- First, there's hemoglobin F (or HbF), where F stands for fetal hemoglobin, and it's made up of two α-globin and two γ-globin chains. (osmosis.org)
- Hemoglobin A (or HbA), the major adult hemoglobin form, is made up of two α-globin and two β-globin chains. (osmosis.org)
- Finally, hemoglobin A2 (or HbA2)) accounts for a small fraction of adult hemoglobin in the blood, and it's made up of two α-globin and two δ-globin chains. (osmosis.org)
- Individuals with this disorder cannot produce any functional alpha globin and thus are unable to make any functional hemoglobin A, F, or A2. (medscape.com)
- Normal adult blood also contains ≤ 2.5% Hb A2 (composed of alpha and delta chains) and 1.4% hemoglobin F (fetal hemoglobin), which has gamma chains in the place of beta chains. (msdmanuals.com)
- Thalassemia results from unbalanced hemoglobin synthesis caused by decreased production of at least one globin polypeptide chain (beta, alpha, gamma, delta). (msdmanuals.com)
- Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
- The beta chain of embryonic hemoglobin is formed by epislon globin, that is soon replaced by gamma globins in 3 months. (biologybard.com)
- Hemoglobin A(2) (alpha(2)delta(2)) is an important hemoglobin variant which is a minor component (2-3%) in the circulating red blood cells, and its elevated concentration in beta-thalassemia is a useful clinical diagnostic. (rcsb.org)
- Hemoglobin E (E26K(beta)), formed as a result of the splice site mutation on exon 1 of the beta-globin gene, is another important hemoglobin variant which is known to be unstable at high temperatures. (rcsb.org)
- Using the coordinates of the delta-chain of HbA(2) (R2 state), we also modeled the structure of hemoglobin homotetramer delta(4) that occurs in the case of rare HbH disease. (rcsb.org)
- Globin chain switching replaces gamma chains with ________ chains in adult hemoglobin. (testbank.ltd)
- The ß-hemoglobinopathies, such as sickle cell disease and ß-thalassemia, are one of the most common genetic diseases worldwide and are caused by mutations affecting the structure or production of ß-globin subunits in adult hemoglobin. (bvsalud.org)
- Many gene editing efforts to treat the ß-hemoglobinopathies attempt to correct ß-globin mutations or increase γ-globin for fetal hemoglobin production. (bvsalud.org)
- δ-globin, the subunit of adult hemoglobin A2, has high homology to ß-globin and is already pan-cellularly expressed at low levels in adult red blood cells. (bvsalud.org)
- However, upregulation of δ-globin is a relatively unexplored avenue to increase the amount of functional hemoglobin. (bvsalud.org)
- Here, we use CRISPR-Cas9 to repair non-functional transcriptional elements in the endogenous promoter region of δ-globin to increase overall expression of adult hemoglobin 2 (HbA2). (bvsalud.org)
- METHODS: Study was done on a cohort of 8,471 subjects referred for thalassemia screening, 317 (3.7%) were suspected of having δ-globin gene defects due to reduced hemoglobin (Hb) A2 levels and/or appearance of Hb A2-variants on hemoglobin analysis. (bvsalud.org)
- Hemoglobin A2 (HbA2, α2δ2) is expressed at a low level in adult blood due to the lack of the Kruppel-like factor 1 (KLF1) binding motif in the δ-globin promoter region. (bvsalud.org)
- Hemoglobin is involved in the transport of other gases: It carries some of the body's respiratory carbon dioxide (about 20-25% of the total [9] ) as carbaminohemoglobin , in which CO 2 is bound to the globin protein. (ipfs.io)
- The name hemoglobin is derived from the words heme and globin , reflecting the fact that each subunit of hemoglobin is a globular protein with an embedded heme group. (ipfs.io)
- Hemoglobin consists of protein subunits (the "globin" molecules), and these proteins, in turn, are folded chains of a large number of different amino acids called polypeptides . (ipfs.io)
- The globin part comprises four polypeptide chains, two identical polypeptide chain in hemoglobin. (biochemden.com)
- Interestingly, the globins from the lamprey, sea hare and the legumes are as distant from one another as are α-hemoglobin and β-hemoglobin from myoglobin. (pharmaceuticalintelligence.com)
- This state of affairs is properly illustrated by Hb Kempsey, a globin allele that maintains the hemoglobin in a high oxygen affinity structure, causing polycythemia as a result of the lowered peripheral delivery of oxygen is misinterpreted by the hematopoietic system as being due to an inadequate manufacturing of red blood cells. (iqmail.com.br)
- Beta thalassemia is a genetic disorder where there's a deficiency in production of the β-globin chains of hemoglobin, which is the 2017-04-12 😍🖼Animated Mnemonics (Picmonic): https://www.picmonic.com/viphookup/medicosis/ - With Picmonic, get your life back by studying less and remembering more. (netlify.app)
Protein7
- It is made up of an iron containing haeme molecule surrounded by a protein called globin. (ndtv.com)
- We have previously demonstrated that KLF1-GATA1 fusion protein could interact with the δ-globin promoter and increase δ-globin expression in human primary CD34+ cells. (bvsalud.org)
- Forced expression of KLF1-GATA1 fusion protein enhanced δ-globin gene and HbA2 expression, as well as reduced hypoxia-related sickling, in erythroid cells cultured from both human sickle CD34+ cells and SCD mouse hematopoietic stem cells (HSCs). (bvsalud.org)
- The molecule also carries the important regulatory molecule nitric oxide bound to a globin protein thiol group, releasing it at the same time as oxygen. (ipfs.io)
- A red-colored conjugated protein (made up of heme and Globin) is present inside the RBC. (biochemden.com)
- The essential protein globin varies in amino acid composition and sequence in different species. (biochemden.com)
- Alpha2HS-glycoprotein [Heavy:Light (H:L) ratio 0.63] was underexpressed in NAF from tumor-bearing breasts, while lipophilin B (H:L ratio 1.42), beta-globin (H:L ratio 1.98), hemopexin (H:L ratio 1.73), and vitamin D-binding protein precursor (H:L ratio 1.82) were overexpressed. (biomedcentral.com)
Chains10
- A very tightly controlled globin chain production process keeps the ratio of alpha chains to non-alpha chains at 1.00 (± 0.05). (medscape.com)
- Any defect in the amount or structure of the globin chains can give rise to abnormal haemoglobins and disease states referred to as thalassemias-hemoglobinopathies. (ndtv.com)
- If the person has just one mutated gene that codes for either a reduced production or absent production of beta globin chains, then they have beta thalassemia minor. (osmosis.org)
- If the person has two β0 mutations then no beta globin chains are produced, and they're said to have beta thalassemia major. (osmosis.org)
- When there's a β-globin chain deficiency, free α-chains accumulate within red blood cells, and they clump together to form intracellular inclusions, which damage the red blood cell's cell membrane . (osmosis.org)
- Abnormal production of alpha-globin chains results in a relative excess of gamma-globin chains in fetuses and newborns and of beta-globin chains in children and adults. (medscape.com)
- a fetus's blood is clear until the sixth month and then globin chains turn it red. (testbank.ltd)
- This would increase the proportion of ________ globin chains. (testbank.ltd)
- Thalassemias involving delta, gamma, epsilon, and zeta chains are rare and usually not associated with significant disease outside of the neonatal period. (netlify.app)
- Alpha globin chains are absent / reduced in this type of thalassemia. (netlify.app)
Gamma4
- This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
- There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
- From the differences in intersubunit contacts among beta(4), gamma(4), and delta(4), we formed a hypothesis regarding the possible tetramerization pathway of delta(4). (rcsb.org)
- Alpha, beta, and delta crystallins occur in avian and reptilian lenses, while alpha, beta, and gamma crystallins occur in all other lenses. (lookformedical.com)
Mutations2
- We report the characterization of five novel delta-globin gene mutations detected during routine screening for thalassemia. (mcmaster.ca)
- This Hb A2-Roi-Et, results from a double mutations in-cis, δCD82(AAG>AAT) and δCD133(GTG>ATG), was interestingly found in combination with an in trans, 12.6 kb deletional δß0-thalassemia in an adult Thai woman who had no Hb A2 and elevated Hb F. A multiplex-allele-specific PCR was developed to detect these novel δ-globin gene defects. (bvsalud.org)
Molecule1
- 5 of these are strong bonds (4 to the protoporphyrin, 1 to the globin chain) with the 6th available for an oxygen molecule. (thegasmanhandbook.co.uk)
Promoter2
- Promoter edited HUDEP-2 immortalized erythroid progenitor cells exhibit striking increases of HBD transcript, from less than 5% to over 20% of total ß-like globins in clonal populations. (bvsalud.org)
- globin promoter or a BCL11A erythroid enhancer. (cdc.gov)
Proteins1
- 11.02 Explain how globin chain switching, development of organs, and the types of proteins cells make over time illustrate gene expression. (testbank.ltd)
Synthesis1
- The result is either a reduced, or completely absent beta globin chain synthesis. (osmosis.org)
Abnormal1
- Normally we have 2 copies of Hb A gene (Hb A/A). Hb E is an abnormal haemoglobin with a mutation in the b-globin chain. (ndtv.com)
Amino acid1
- One manifestation of negative selection in the globins is that minimal 3-base type amino acid replacements occur less frequently than would be expected if base replacements had occurred and were accepted at random. (pharmaceuticalintelligence.com)
Gene regulation2
- This has prompted intensive investigations on γ-globin gene regulation, the outcome of which may provide insights for the therapeutic augmentation of HbF as treatment for the β-hemoglobinopathies. (biomedcentral.com)
- These findings add mechanistic insight to globin gene regulation and offer a new therapeutic avenue to treat ß-hemoglobinopathies. (bvsalud.org)
Hemoglobins1
- At birth, The 2 adult hemoglobins present at birth are beta globin and delta globin. (biologybard.com)
Chain3
- With beta thalassemia , there's either a partial or complete β-globin chain deficiency, due to a point mutation, which is when a single nucleotide in DNA is replaced by another nucleotide , in the beta globin gene present on chromosome 11. (osmosis.org)
- Beta-delta-thalassemia is a less common form of beta-thalassemia in which production of both the delta chain as well as the beta chain is impaired. (msdmanuals.com)
- The globin chain is a long polypeptide chain, which attaches to the haem group through bonding with the Fe2+. (thegasmanhandbook.co.uk)
Beta thalassaemia1
- The molecular basis of delta beta thalassaemia in an Indian family is shown here to be due to a previously undescribed deletion within the beta globin gene complex. (ox.ac.uk)
Lepore1
- The combination of predominantly HbS with microcytosis resembles sickle cell-beta-thalassemia, but low to low-normal Hb A2 levels due to crossover imposition forex luxembourg of one delta-globin gene suggest HbS-Hb Lepore. (top5binarybrokers.com)
Transcription1
- Instead, multiple transcription factor elements are necessary for robust upregulation of δ-globin from the endogenous locus. (bvsalud.org)
Present1
- It is also linked to the nitrogen of the imidazole ring of histidine present in the globin part. (biochemden.com)
Deletions in the beta globin2
- Beta-thalassemia results from decreased production of beta-polypeptide chains due to either mutations or deletions in the beta globin gene, leading to impaired production of hemoglobin (Hb) A. Mutations or deletions may result in partial loss (beta + allele) or complete loss (beta 0 allele) of beta globin function. (msdmanuals.com)
- Naturally occurring, large deletions in the beta-globin locus result in hereditary persistence of fetal hemoglobin, a condition that mitigates the clinical severity of sickle cell disease (SCD) and beta-thalassemia. (unisr.it)
Sickle cell a4
- RESEARCH OBJECTIVES Background Mutations in the globin gene cluster are among the most common inherited diseases in humans, leading to disorders that affect many individuals in the U.S. and around the world, such as sickle cell anemia and thalassemia (Cooley's anemia). (nih.gov)
- These studies have established the feasibility of this therapeutic approach to diseases with abnormal beta-globin production including sickle cell anemia and beta- thalassemia. (nih.gov)
- Mutant beta globin causes sickle cell anemia. (nih.gov)
- Hereditary persistence of fetal hemoglobin, 141749, AD, 3 Mutant beta globin that sickles causes sickle cell anemia (603903). (netlify.app)
Gene defects1
- 11. HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects. (nih.gov)
Polypeptide1
- Analysis of the 203 Pb-labelled haemoglobin suggested that about 82% of 203Pb was in the globin polypeptide. (bmj.com)
Mutation5
- He showed a presence of δ-globin gene mutation HbA 2 Saurashtra CD 100(C→T) (HBD: c.301C→T) and a single 3.7 kb deletion in the α-globin gene. (nih.gov)
- A novel gain-of-function PIP4K2A mutation elevates the expression of beta-globin and aggravates the severity of alpha-thalassemia. (amedeo.com)
- 7. [Thalassemia intermedia caused by interaction of IVS-1 1(G--A) mutation in the beta-globin gene and heterozygotic triplication in the alpha-globin gene]. (nih.gov)
- 18. A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. (nih.gov)
- Because this mutation also adversely affects mRNA processing, there is reduced output of beta globin mRNA. (netlify.app)
Deletion1
- Disruption of just the putative HbF silencer results in a mild increase in gamma-globin expression, whereas deletion or inversion of a 13.6-kb region causes a robust reactivation of HbF synthesis in adult erythroblasts that is associated with epigenetic modifications and changes in chromatin contacts within the beta-globin locus. (unisr.it)
Allele1
- 5. Phenotypes of individuals with a beta thal classical allele associated either with a beta thal silent allele or with alpha globin gene triplication. (nih.gov)
Expression10
- Hydroxyurea-inducible SAR1 gene acts through the Giα/JNK/Jun pathway to regulate γ-globin expression. (nih.gov)
- 15. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies. (nih.gov)
- Thus, reactivating the expression of the γ-globin gene in adult patients to ameliorate their clinical symptoms has become one of the best therapeutic strategies to treat β-thalassemia and sickle cell diseases. (chinagene.cn)
- Some drugs have been developed clinically to increase γ-globin gene expression for those patients. (chinagene.cn)
- We hope to provide a useful reference for in-depth studies on transcriptional regulation of γ-globin gene expression in the future. (chinagene.cn)
- Regulation of γ-globin gene expression and its clinical applications[J]. Hereditas(Beijing), 2018, 40(6): 429-444. (chinagene.cn)
- Developmental switching of messenger RNA expression from the human alpha-globin cluster: fetal/adult pattern of theta-globin gene expression. (chinagene.cn)
- Stamatoyannopoulos G . Control of globin gene expression during development and erythroid differentiation. (chinagene.cn)
- Activation of delta-globin gene expression by erythroid Krupple-like factor: a potential approach for gene therapy of sickle cell disease. (chinagene.cn)
- Inhibitory effects of SARS-CoV-2 Spike protein and BNT162b2 vaccine on erythropoietin-induced globin gene expression in erythroid precursor cells (ErPCs) from β-thalassemia patients. (cdc.gov)
Thalassemia6
- 1. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients. (nih.gov)
- 3. Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome. (nih.gov)
- Reduced amounts of detectable beta globin causes beta-plus-thalassemia. (nih.gov)
- Beta-delta-thalassemia is a less common form of beta-thalassemia in which production of both the delta chain as well as the beta chain is impaired. (msdmanuals.com)
- Unlike β-globin, γ-globin is mainly expressed at the fetal stage and remains intact in β-thalassemia and sickle cell disease patients. (chinagene.cn)
- This review focuses on the main transcription factors and epigenetic modifiers that are involved in γ-globin gene regulation, and some applications for clinical treatment for β-thalassemia and sickle cell diseases based on these studies. (chinagene.cn)
Cluster1
- In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11 . (nih.gov)
Variant1
- In this case study, we report a β-thalassaemia trait (IVS 1-5G→C) (HBB:c.92 + 5G→C) with HbA 2 of 1% showing the presence of δ-globin gene variant HbA 2 St. George CD 81 (C→T) (HBD:c.244C→T). A similar observation was reported in another unrelated patient who showed near absence of HbA 2 level in HPLC. (nih.gov)
Disorders1
- He is also engaged in investigations into targeting the delta-globin gene as an alternate strategy to therapies of the severe beta-globin disorders. (nih.gov)
Variants1
- Relationship between serum lactate dehydrogenase levels and prognosis in patients infected with omicron and delta variants of COVID-19: A cross-sectional study. (cdc.gov)
Distinct1
- Two conformational dimers of new globins can be AHR sorting: increased distinct calculi PIP3-activated as Sarcoplasmic( transcription) and alternatively-slpiced resistance-associated studies( PAH) cellular as electron. (familie-vos.de)
Human1
- Besides α- and β-globins, the human genome also has a third globin gene-γ-globin. (chinagene.cn)
Analysis1
- δ- globin gene analysis was carried out by DNA sequencing. (nih.gov)