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When an individual has more than four
genes, this is referred to as an alpha-globin triplication. Extra alpha-globin genes can cause alpha/beta hemoglobin imbalance in the presence of beta-thalassemia or beta-thalassemia trait.In humans, the α-globin gene family resides on chromosome 16p13. 3 and is composed of a cluster of 3 genes (ζ2-α2-α1) with protein products that bind heme and assemble into hemoglobin.Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell.
What is the alpha-globin gene family?
In humans, the α-globin gene family resides on chromosome 16p13. 3 and is composed of a cluster of 3 genes (ζ2-α2-α1) with protein products that bind heme and assemble into hemoglobin.
What is alpha thalassemia gene?
Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell.
Globin genes, hemoglobin, and development
Images related to the topicGlobin genes, hemoglobin, and development
What is alpha-globin common mutation?
Alpha-Globin Common Mutation Analysis – Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from mild abnormalities of erythrocytic indices to severe anemia. Genetic counseling may be advised for some patients.
What is Alpha Thal trait?
Alpha thalassemia (thal uh SEE mee uh) trait is a condition that affects the amount of hemo- globin in the red blood cells. • Adult hemoglobin (hemoglobin A) is made of alpha and beta globins. • Normally, people have 4 genes for alpha globin with 2 genes on each chromosome (αα/αα).
Why is alpha globin important?
Within cells, the erythroid-specific molecular chaperone α hemoglobin stabilizing protein specifically binds to multiple forms of α-globin (apo, ferrous, and ferric) and stabilizes free α-chains by promoting protein folding and resistance to protease digestion.
What does the HbS gene do?
Sickle hemoglobin (HbS) is caused by a mutation in the β globin gene which affects the stability and solubility of the β chain. When HbS is deoxygenated (e.g. during inflammation, infection, dehydration or hypoxia) it polymerizes and distorts the red cell, eventually resulting in the characteristic sickle shape.
Is alpha thalassemia serious?
However, health problems caused by alpha thalassemia and its treatment are common and can be serious. Severe thalassemia (severe hemoglobin H or hydrops fetalis) can cause heart failure and death.
See some more details on the topic What is alpha-globin gene triplication? here:
Thalassemia Intermedia Caused by a Combination of a Globin …
Triplication exists in two forms, aaa-anti37 configuration or aaa-anti 42 configuration. Alpha gene triplication (ααα-anti 3.7) is a rare numerical change in …
Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thal…
The simultaneous presence of α-globin gene triplication with β-thalassemia mutations may cause double heterozygous states with clinical and hematologic …
β-Thalassemia Intermedia: Interaction of α-Globin Gene …
These data showed that the effect of the association of α-globin gene triplication with a heterozygous β thalassemia mutation is highly variable …
Is alpha thalassemia life threatening?
Alpha thalassemia major (also called hydrops fetalis). In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. After they’re born, babies with alpha thalassemia major need frequent blood transfusions to survive.
What are the 4 types of alpha thalassemia?
…
There are 4 types of alpha thalassemia:
- Alpha thalassemia silent carrier. …
- Alpha thalassemia carrier. …
- Hemoglobin H disease. …
- Alpha thalassemia major.
Is alpha thalassemia a disability?
Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. ATR-X syndrome is characterized by intellectual disability, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia.
What is the life expectancy of someone with thalassemia?
Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.
Does alpha thalassemia affect immune system?
Because of this, people with thalassemia are said to be “immunocompromised,” which means that some of the body’s defenses against infection aren’t working. When you are immunocompromised, it is easier for you to get infections and you sometimes need extra protection, like flu shots and other vaccines.
Alpha-thalassemia – an Osmosis Preview
Images related to the topicAlpha-thalassemia – an Osmosis Preview
How do you know if you have alpha thalassemia trait?
Tell the doctor if your child’s newborn screening test showed Bart’s hemoglobin. If a small amount of Bart’s hemoglobin is present at birth, it will usually disappear shortly after birth. This means your child has a one- or two-alpha gene deletion and has alpha thalassemia trait or is a silent carrier.
How do you test for alpha thalassemia trait?
- Complete blood count (CBC). This test checks the size, number, and maturity of different blood cells in a set volume of blood.
- Hemoglobin electrophoresis. …
- Ferritin. …
- DNA testing.
Does alpha thalassemia affect pregnancy?
Alpha thalassemia major (ATM or “hydrops fetalis”) happens when a developing baby has no working alpha genes. Both parents must carry alpha thalassemia trait to be at-risk for a baby with ATM. This condition causes fetal death if untreated. ATM may also cause serious pregnancy problems and could lead to maternal death.
How is thalassemia diagnosis?
- A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells. …
- A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow is not producing an adequate number of red blood cells.
How many alpha-globin genes do we have?
Genetic basis of disease
Normal individuals have four α-globin genes arranged as linked pairs, α2 and α1, at the tip of each chromosome 16, the normal α genotype being written as αα/αα.
What is the difference between anemia and thalassemia?
Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It’s caused by either a genetic mutation or a deletion of certain key gene fragments.
What disease is HbS?
Sickle cell disease is an inherited form of anemia. Under certain conditions, the red blood cells acquire a crescent, or ‘sickle’ shape and break down (hemolyse) more quickly than usual. This sickling occurs because the hemoglobin within the red blood cells is defective (denoted HbS for hemoglobin “sickle”).
Does HbS cause sickle cell anemia?
Sickle cell disease is caused by a variant of the beta-globin gene called sickle hemoglobin (Hb S). Inherited autosomal recessively, either two copies of Hb S or one copy of Hb S plus another beta-globin variant (such as Hb C) are required for disease expression.
How does HbS cause sickling?
Desaturation of HbS results in the polymeriz- ation of haemoglobin, forming large aggregates called tactoids, which deform the red cells into the typical sickle shape.
What causes alpha thalassemia?
Alpha thalassemia is caused by mutations in two different genes, the HBA1 and the HBA2 genes. Most individuals inherit two copies of each gene (for a total of four genes); one of each from a person’s father, and one of each gene from a person’s mother.
The Structure of the Alpha Globin Gene pt 4 / 6
Images related to the topicThe Structure of the Alpha Globin Gene pt 4 / 6
What should I eat if I have alpha thalassemia?
Nutrition is very important for many, especially those with thalassemia. Individuals are encouraged to eat a balanced diet consisting of protein, grains, fruits, and vegetables and may need to pay extra attention to ensure not getting high amounts of iron through their diet.
Can I donate blood if I have alpha thalassemia?
You must not donate blood if you have had babesiosis. You will be permanently deferred. If you have G6PD (Glucose-6-Phosphate Dehydrogenase Deficiency) or Thalassemia (minor), you can donate blood if you meet the haemoglobin requirement. Inform our medical staff if you have G6PD or Thalassemia.
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