Alpha globins. Medical search. Frequent questions (2)

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)
This letter extends these findings to chromosomal RNA polymerase II genes by studying transcriptional interference between duplicated alpha-globin gene constructions. (ox.ac.uk)
Furthermore, this inhibition is alleviated by placing transcriptional termination signals between the two alpha genes. (ox.ac.uk)
In a four-year period (2000-2004), 93 voluntary couples from Khuzestan province (mostly Ahvaz area) who were proved to be carrier for alpha thalassemia, beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus sampling {CVS) plus direct or indirect DNA analysis at first trimester of pregnancy. (ijbc.ir)
The gene, called 16pHQG;16 (HGMW-approved symbol LUC7L), is widely transcribed and lies in the opposite orientation with respect to the alpha-globin genes. (ox.ac.uk)
Mutations in globin genes cause thalassemias . (medscape.com)
Beta thalassemia affects one or both of the beta-globin genes. (medscape.com)
In beta thalassemia minor (ie, beta thalassemia trait or heterozygous carrier-type), one of the beta-globin genes is defective, resulting in an approximately 50% decrease in the synthesis of the beta-globin protein. (medscape.com)
In beta thalassemia major (ie, homozygous beta thalassemia), the production of the beta-globin chains is severely impaired because both beta-globin genes are mutated. (medscape.com)
People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (childrensmn.org)
Every child inherits four genes that make alpha globin: two from each parent. (childrensmn.org)
The genes coding for alpha and beta globin chains are located on chromosome 16 and chromosome 11, respectively. (medscape.com)
Sickle cell anemia is a homozygous-recessive disorder, that is, the individual receives two mutant genes that code for the variant beta globin chain. (medscape.com)
People who have moderate to severe forms of alpha thalassemia have inherited faulty hemoglobin genes from both parents. (stjude.org)
Alpha globin is made by four specific genes-two on each strand of chromosome 16. (stjude.org)
Each person needs these four genes (two from each parent) to make enough alpha globin for the body's hemoglobin to work normally. (stjude.org)
If two genes are missing-a person has alpha thalassemia trait (also called alpha thalassemia minor) and may have mild anemia. (stjude.org)
If all four genes are missing-a person has alpha thalassemia major (also called hemoglobin Bart's or hydrops fetalis). (stjude.org)
A parent with alpha globin-making genes that are altered or missing, may have a child with a form of alpha thalassemia. (stjude.org)
Alpha thalassemia is the condition where there is a reduced formation of alpha polypeptide chains because of an absence of alpha genes. (tutorialspoint.com)
There are two forms of alpha thalassemia depending on what genes are missing. (tutorialspoint.com)
Alpha + is when only one gene is missing from chromosome 16, while alpha 0 is when both genes are lacking from the same chromosome. (tutorialspoint.com)
Causes and Risk Factors − The condition is inherited and is due to a genetic mutation of the alpha genes that are responsible for making alpha polypeptide chains. (tutorialspoint.com)
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)
Mutation in these genes can also result in low levels of beta-globin this specific error this error in the human body is referred to one of the different forms of SCD called beta-thalassemia. (ukessays.com)
Genes are the instructions that control how red blood cells make alpha- and beta-globin proteins. (cdc.gov)
All people have two genes for making beta-globin. (cdc.gov)
It is thing to know about inherited when a child receives two sickle beta-globin genes-- one from each parent. (cdc.gov)

Thalassemias are group of autosomal recessive disorder of hemoglobin synthesis characterized by the reduction in the rate of synthesis of globin chain of one or more globin chain. (laboshop.ae)
Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. (medlineplus.gov)
In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. (medlineplus.gov)
Beta-globin is one of four components (subunits) that make up hemoglobin. (medlineplus.gov)
In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. (medlineplus.gov)
We hypothesized that the alpha subunit of hemoglobin expressed in endothelium also facilitates nitrite reduction proximal to smooth muscle. (bilead.cn)
Alpha globin is a building block of hemoglobin. (childrensmn.org)
What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major? (childrensmn.org)
People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. (childrensmn.org)
Hemoglobin is made of two alpha globins and two beta globins. (childrensmn.org)
Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. (childrensmn.org)
Someone who inherits three alpha thalassemia mutations has hemoglobin H disease . (childrensmn.org)
Hb A, the major hemoglobin in adults, is composed of four polypeptide chains, two alpha chains, and two beta chains (alpha2 beta2) held by noncovalent bonds. (medscape.com)
The heme and the globin molecules together form hemoglobin, which can bind up to four oxygen molecules. (medscape.com)
The hemoglobin protein affected in alpha thalassemia is the alpha globin. (stjude.org)
Thousands of infants are born with alpha thalassemia trait or hemoglobin H disease each year, but it is most common in Southeast Asia. (stjude.org)
The body's hemoglobin works normally because the lack of alpha globin protein is minor. (stjude.org)
The symptoms for people with hemoglobin H disease vary depending on the type of alpha thalassemia. (stjude.org)
Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
Problems with the subunits that make up hemoglobin, including low levels of beta-globin, reduce or eliminate the production of this molecule. (medlineplus.gov)
Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. (medlineplus.gov)
In this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. (medlineplus.gov)
The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. (medlineplus.gov)
In these other types of sickle cell disease, just one beta-globin subunit is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C or hemoglobin E. (medlineplus.gov)
In hemoglobin SC (HbSC) disease, the beta-globin subunits are replaced by hemoglobin S and hemoglobin C. Hemoglobin C results when the amino acid lysine replaces the amino acid glutamic acid at position 6 in beta-globin (written Glu6Lys or E6K). (medlineplus.gov)
Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
Fetal hemoglobin and hemoglobin A2 is usually normal in alpha thalassemia. (tutorialspoint.com)
Measuring hemoglobin levels in a couple may also help to show if they are carrying an alpha gene mutation. (tutorialspoint.com)
Hemoglobin consists of four subunits: 2 subunits called alpha-globin and two subunits called beta-globin. (ukessays.com)
Schroeder WA, Shelton JB, Shelton JR, Powars D, Hemoglobin Sunshine Seth - alpha 2 (94 (G1) Asp replaced by His) beta 2. (ithanet.eu)
Hemoglobin is made up of two pairs of globin chains. (msdmanuals.com)
Hemoglobin is made from two similar proteins, one called alpha-globin and one called beta-globin, that "stick together. (cdc.gov)
Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G). (bvsalud.org)
a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/ß 0 thalassemia. (bvsalud.org)

In the alpha-thalassemias, there is absence or decreased production of beta-globin subunits, whereas in the beta- thalassemias, there is absent or reduced production of beta globin subunits. (laboshop.ae)
The main haemoglobin in adult humans is Haemoglobin A and it contains two alpha and two beta subunits. (bartleby.com)

The decreased synthesis of globin chain may result from gene deletion, non-sense mutation or mutation that affects the transcription or stability of mRNA products. (laboshop.ae)
Peripheral smear in beta-zero thalassemia minor showing microcytes (M), target cells (T), and poikilocytes.The genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported. (medscape.com)
Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (childrensmn.org)
In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (childrensmn.org)
Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (childrensmn.org)
Someone who inherits one alpha thalassemia mutation is an alpha thalassemia carrier . (childrensmn.org)
One HBB gene mutation produces abnormal and different types of beta globin. (ukessays.com)
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)

Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. (medlineplus.gov)
HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
These mutations, by causing impaired synthesis of the beta-globin protein component of Hb, result in anemia. (medscape.com)
Someone who inherits two alpha thalassemia mutations has alpha thalassemia trait . (childrensmn.org)
Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (childrensmn.org)
β-thalassemia results from numerous mutations or rarely deletions of the β globin gene on chromosome 11. (scirp.org)

Develop lentiviral vectors carrying human alpha-globin gene for gene therapy of alpha thalassemia (AT) and perform initial tests in a cell line. (ca.gov)

HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
they include thalassemia syndromes, sickle cell disease & globin chain variants [1]. (scirp.org)
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes. (ithanet.eu)
Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. (bvsalud.org)

2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)
Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. (medscape.com)
A genetic counselor can help families understand the different ways alpha thalassemia runs in families. (childrensmn.org)

This questionnaire more globin polypeptide chains. (who.int)

Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)

And this is only to regulate the synthesis of alpha globin in red cells, a very straightforward differentiation task. (uncommondescent.com)
The defect can be a complete absence of the beta-globin protein (ie, beta-zero thalassemia) or a severely reduced synthesis of the beta-globin protein (ie, beta-plus thalassemia). (medscape.com)

1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
The excess unpaired alpha-globin chains aggregate to form precipitates that damage red cell membranes, resulting in intravascular hemolysis. (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)
Normally, adults have one pair of alpha chains and one pair of beta chains. (msdmanuals.com)

DNA studies show that the patient has not inherited either maternal alpha globin allele. (ox.ac.uk)
Here, we create two mouse strains to test this: an endothelial-specific alpha globin knockout (EC Hba1Δ/Δ) and another with an alpha globin allele mutated to prevent alpha globin's inhibitory interaction with endothelial nitric oxide synthase (Hba1WT/Δ36-39). (bilead.cn)
This is often the situation where it is the alpha + form, and only one allele is affected. (tutorialspoint.com)

This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
Globin Locus. (uncommondescent.com)

We have investigated in detail how the remote regulatory elements of the alpha-globin cluster become activated as hematopoietic stem cells (HSCs) undergo commitment, lineage specification, and differentiation to form red blood cells. (ox.ac.uk)
We have identified the first gene lying on the centromeric side of the alpha-globin gene cluster on human 16p13.3. (ox.ac.uk)
To examine the role of the 16pHQG;16 gene in delimiting the extent of the alpha-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse alpha-cluster on chromosome 11. (ox.ac.uk)
Establishing the full extent of the human 16pHQG;16 gene has allowed us to define the centromeric limit of the region of conserved synteny around the human alpha-globin cluster to within an 8-kb segment of chromosome 16. (ox.ac.uk)
Hb F expression is affected by several quantitative trait loci (QTL) within and outside the β globin gene cluster. (scirp.org)

The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (childrensmn.org)
The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. (childrensmn.org)
This imbalance causes anemia and the other medical problems of alpha thalassemia. (childrensmn.org)
The intensity of β-thalassemia may be mitigated by the production of Hb F as it may alter the imbalance of the α/β globin chain [5]. (scirp.org)

A female child with alpha thalassaemia trait, moderate mental retardation, and dysmorphic features has inherited an abnormal chromosome 16 complement as a result of the unbalanced segregation of a maternal balanced translocation. (ox.ac.uk)

This gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
It is made up of an iron containing haeme molecule surrounded by a protein called globin. (ndtv.com)

These abnormal forms of beta-globin are often designated by letters of the alphabet or sometimes by a name. (medlineplus.gov)
Therefore, a child can only have SCD having SCT is that when both of his/her parents have at least one abnormal you could have a beta-globin gene. (cdc.gov)

Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (medscape.com)

Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. (medlineplus.gov)
The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
The incidence of methemoglobinemia, beta-globin type is unknown. (medlineplus.gov)

Alpha thalassemia major (also called hydrops fetalis ). (childrensmn.org)
In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (childrensmn.org)
After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. (childrensmn.org)
The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry. (stanford.edu)

Localisation of human alpha globin to 16p13.3----pter. (ox.ac.uk)
This accounts for the alpha thalassaemia trait in the child and places the human alpha globin complex in band 16p13.3----pter. (ox.ac.uk)

Haemoglobins are formed when four Globin molecules link together. (bartleby.com)

Incidence of alpha-globin gene defect in the Lebanese population: a pilot study. (cdc.gov)

Severe alpha thalassemia may lead to fetal demise or a life-long need for chronic transfusions with multiple medical complications, especially iron overload from transfusions. (ca.gov)

Depending on the type of alpha thalassemia, anemia can be very mild or very severe. (childrensmn.org)
This is the most severe type of alpha thalassemia. (stjude.org)

5 3 Herein, we have developed and performed a targeted small molecule screen to identify compounds which downregulate α-globin expression. (haematologica.org)

People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. (childrensmn.org)
People with alpha thalassemia trait have a very mild anemia. (childrensmn.org)
In alpha-thalassemia minor and beta-thalassemia minor, people have mild anemia with no symptoms. (msdmanuals.com)

A): a new silent ß-globin gene variant found in coexistence with a-thalassemia in a family of African origin. (medscape.com)

Alpha thalassemia trait (also called alpha thalassemia minor ). (childrensmn.org)
What Are the Signs & Symptoms of Alpha Thalassemia Carrier or Trait? (childrensmn.org)
People who are carriers of alpha thalassemia or have alpha thalassemia trait usually have mild or no symptoms and need little or no treatment. (stjude.org)

If a strong suspicion exists and if a definitive answer is required, polymerase chain reaction (PCR) evaluation should be performed for globin-chain analysis. (medscape.com)

Blood transfusions -are the main treatment for people with severe alpha thalassemia. (stjude.org)

Long-range regulation of alpha-globin gene expression. (ox.ac.uk)
In turn, we have addressed how, during this process, the upstream elements control the correct spatial and temporal expression from the alpha-gene promoter which lies approximately 60 kb downstream of these elements. (ox.ac.uk)
This identified IOX1, a pan-histone demethylase inhibitor, which selectively downregulates α-globin expression without perturbing erythroid differentiation or general gene expression, more specifically β-like globin expression. (haematologica.org)

What are the signs and symptoms of alpha thalassemia? (stjude.org)
Signs and symptoms of alpha thalassemia are caused by a lack of oxygen being carried throughout the body. (stjude.org)

Anatomy7

Organisms3

Diseases7

Chemicals and Drugs49

Analytical, Diagnostic and Therapeutic Techniques and Equipment7

Phenomena and Processes25

Information Science3

Genes32

Hemoglobin36

Subunits2

Mutation8

Mutations6

Human alpha-globin gene1

Variants7

Genetic3

Polypeptide chains1

Deletions1

Synthesis2

Chains4

Allele3

Locus2

Cluster5

Imbalance4

Chromosome 161

Protein called2

Abnormal2

Molecular1

Methemoglobinemia3

Thalassemia major4

16p13.32

Molecules1

Defect1

Fetal1

Type of alpha thalassemia2

Molecule1

Anemia3

Variant1

Trait3

Chain1

Severe alpha thalassemia1

Expression3

Signs and symptoms2