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Thalassemia is a set of inherited blood disorders which pass from parents/elder family members to their children and affect the type and amount of haemoglobin the body releases. A person with thalassemia has one or more genetic mutations which he has inherited, and it results in underproduction of normal haemoglobin. Pregnant women may transmit the infected gene to their children.
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What is Beta-Thalassemia Screening Test?
Beta-Thalassemia is caused due to the mutation in one or both of the beta globin genes. Among more than 250 identified mutations, only about 20 are known to be the most common. The seriousness of the anemia (iron deficient anemia) caused due to beta thalassemia depends on the presence of mutations and if there is deficient of beta globin chains production (called beta+ thalassemia) or if a complete absence of production (beta 0 thalassemia). Listed below are the different types of Beta- Thalassemia:
Beta Thalassemia Minor (Beta Thalassemia Trait).
Individuals with Beta Thalassemia Minor have one normal gene and other with a mutation, which causes a mild decrease in the production of beta globin. These persons usually don’t have any health problems other than an abnormally little amount of red blood cells and may have mild anemia which won’t respond to iron supplements. A person’s children inherit this gene in many cases.
An affected person, in this condition, has two abnormal genes, which lead to a moderate to a severe deficiency in beta globin production. In this case, an individual may develop symptoms in a later stage than someone having thalassemia major (explained below) and often with milder signs or symptoms. He rarely requires treatment with blood transfusion. The seriousness of the anemia and health issues faced depends on the types of mutation present. The degree of anemia is the dividing boundary between thalassemia intermedia and thalassemia major, some other are the number and frequency of blood transfusions required. A person with thalassemia intermedia need occasional transfusions, but those are not required on a regular basis.
Thalassemia Major or Cooley’s Anemia.
Thalassaemia Major is known to be the most severe type of beta-thalassemia. The one suffering from has two abnormal genes that lead to a severe decrease or complete absence of beta globin production, which prevent the creation of the required amounts of normal hemoglobin (Hb A). This condition appears typically in the first two years of life and leads to life-threatening anemia, poor body growth, as well as skeletal abnormalities during infancy. This anemia needs lifelong blood transfusions on a regular basis and significant ongoing medical treatment. With time, these regular transfusions increase the amounts of iron content in the body. This excess iron may enter the liver, heart, and other organs of the body and can be a reason behind premature death from organ failure. Therefore, an individual undergoing transfusion is required to go for chelation therapy which reduces the iron overload.
Some other types of thalassemia occur when a gene responsible for beta thalassemia is inherited along with a gene for a hemoglobin variant. Most important of these are listed below:
Hb E-beta thalassemia.
It is one of the most usual hemoglobin variants. If an individual inherits one Hb E gene as well as one beta thalassemia gene, this combination leads to the production of Hb E-beta thalassemia, which results in moderately severe anemia which is similar to beta thalassemia intermedia.
Hb S-beta thalassemia or sickle cell-beta thalassemia.
Hb S is known to be the most well known of all the hemoglobin variants. Hb S-beta thalassemia is the result of the Inheritance of one Hb S gene and another one as beta thalassemia. The seriousness of the condition entirely depends on the quantity of beta globin released by the beta gene. If the production of beta globin is negligible, the clinical picture is more similar to sickle cell disease with even more worse baseline anemia.
What sample is required for the Beta-thalassemia Screening Test?
The Beta-thalassemia Screening Test requires a sample of blood for the lab test. The test is performed on EDTA extracted from the blood sample. We provide a doorstep sample collection facility. The test sample collector will visit your registered address in the time slot reserved by you. The Screening results will be emailed to you within 48-72 hours of sample collection.
Is there any test preparation needed for the Beta-thalassemia Screening Test?
The Beta-thalassemia Screening/diagnostic tests don’t require any special preparation for the sample collection. It is a standard blood test, and the sample can be collected any time a day.
How is the lab test results of the Beta-thalassemia Screening Test useful?
The screening tests result helps in genetic counseling. The Genetic counselor, on the basis of the reports, can find some useful treatment for the affected person.
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