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The loss or inactivation of three al- pha-globin genes results in a form of alpha-thalassemia known as hemo- globin H (Hb H) disease. Hb H disease has a variable phe- notype. Hb H disease caused by deletions in the alpha-globin gene locus is associated with moderate anemia, microcytosis, and hypochro- mia.Alpha-globin is a component of both fetal hemoglobin, which is active only before birth and in the newborn period, and adult hemoglobin, which is active throughout the rest of life. Each of the four protein subunits of hemoglobin carries an iron-containing molecule called heme.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.
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What is alpha-globin gene?
Alpha-globin is a component of both fetal hemoglobin, which is active only before birth and in the newborn period, and adult hemoglobin, which is active throughout the rest of life. Each of the four protein subunits of hemoglobin carries an iron-containing molecule called heme.
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.
Alpha Thalassemia
Images related to the topicAlpha Thalassemia
What is alpha thalassemia deletion?
Alpha (α) thalassemia is a hereditary disorder and is caused by deletions or mutations in globin genes. It is present in two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb Bart) syndrome and hemoglobin H (HbH) disease. It is highly prevalent in South-East Asia or Mediterranean countries.
Which gene is deleted in alpha thalassemia?
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.
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.
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.
Is alpha thalassemia an autoimmune disease?
Key points about alpha thalassemia
A thalassemia is an inherited blood disorder. It causes the body to make less hemoglobin than normal. There are 4 different types of alpha thalassemia.
See some more details on the topic What is alpha-globin gene deletion? here:
Alpha-thalassemia | Genetics in Medicine – Nature
Alpha-thalassemia is caused most frequently by deletions involving one or both alpha globin genes. The most common deletions remove a single …
Alpha Globin Gene Deletion or Duplication | Quest Diagnostics
Both parents must be carriers of a thalassemia mutation for a pregnancy to be at risk. For example, if one parent carries an alpha-globin triplication (5 alpha …
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis – EGL …
An individual who carries two alpha-globin gene mutations and two functional alpha-globin genes is a carrier of the alpha-thalassemia trait, and may be …
Alpha Thalassemia (for Parents) – Nemours KidsHealth
Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. Hemoglobin is made of two …
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.
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 happens if one parent has alpha thalassemia?
Hb H disease (Hb H disease) People who have this condition inherited alpha thalassemia trait from one parent and a single alpha gene deletion from the other parent. This condition has variable severity, with anemia that ranges from mild to moderate anemia. Common symptoms may include gallstones and a large spleen.
Does alpha thalassemia affect pregnancy?
Alpha thalassemia major is so severe that affected fetuses will develop anemia due to the lack of functioning red blood cells needed to provide oxygen. Progressive fetal anemia can lead to heart failure because of stress on the fetal heart, which can be seen on ultrasound as fetal hydrops.
hemoglobin bart’s hydrops fetalis syndrome ( Usmle quick review )
Images related to the topichemoglobin bart’s hydrops fetalis syndrome ( Usmle quick review )
What type of mutation is 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.
How many alpha genes are deleted in hemoglobin H disease?
Alpha-thalassemia (α-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb bart) syndrome (deletion/inactivation of all four α-globin genes; –/–), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three α-globin genes; –/-α) (see Figure 1).
What type of gene mutation is thalassemia?
Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).
What does it mean to have thalassemia trait?
People who have thalassemia trait (also called thalassemia minor) carry the genetic trait for thalassemia but do not usually experience any health problems except perhaps a mild anemia. A person may have either alpha thalassemia trait or beta thalassemia trait, depending upon which form of beta protein is lacking.
Is thalassemia the same as sickle cell?
While beta thalassemia is caused by a defect in the beta-globin gene, controlling the production of the beta-globin chains of hemoglobin, sickle cell disease is caused by a defect in hemoglobin itself with the presence of abnormal hemoglobin S.
Is thalassemia a serious disease?
People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.
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.
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.
Which type of alpha thalassemia is not survivable?
Hydrops fetalis (alpha thalassemia major) is incompatible with life and requires identification in utero and in utero transfusions if the fetus is to survive and be born.
What are the side effects of alpha thalassemia?
- extreme tiredness.
- pale skin.
- shortness of breath.
- a fast heartbeat.
- yellow skin and eyes (jaundice)
- moodiness or irritability.
- slow growth.
- change in the shape of bones in the face and head.
Alpha-thalassemia – an Osmosis Preview
Images related to the topicAlpha-thalassemia – an Osmosis Preview
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.
Can white people get alpha thalassemia?
The frequency of alpha thalassemia is low among whites. It is estimated that about 15% of American blacks are silent carriers for alpha thalassemia and about 3% have alpha thalassemia trait; HbH disease is rare in this population.
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