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Thalassemia Types Risk Symptoms Diagnosis Testing

HealthcareOnTime Team 2021-07-18 2023-08-10 3 Min Read
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  • Thalassemia Types Risk Symptoms Diagnosis Testing

    Who is at risk for thalassemia?
    Thalassemia is a purely genetic disorder that is carried over in generations either as carriers or as diseased individuals. Below mentioned are the factors which are the reasons for individuals who are prone to the disease at a higher level:
    Family history of thalassemia: Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
    Certain ancestry: Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry.

    Two types of conditions could be considered in the couples, prior to planning a baby. We will discuss one at a time:

    A) If a normal and a thalassemia minor has a baby, one of the two conditions could occur
    1. The baby could receive two normal genes and is healthy.
    2. The baby could receive one normal gene from one parent and one mutated gene from the other parent and become thalassemia minor same as one of his/her parents.

    B) If two individuals with beta thalassemia trait or best known as beta thalassemia minor have a baby, one of three things can happen
    1. The baby could receive two normal genes and is healthy.
    2. The baby could receive one normal gene from one parent and one mutated gene from the other parent and become thalassemia minor same as one of his/her parents.
    3. The baby could receive two thalassemia genes (one from each parent) and become severely thalassemic.

    What are the Symptoms of thalassemia?
    Though the signs and symptoms associated with Thalassemia are somewhat similar to symptoms of anemia yet there are some more manifestations of it:
    Shortness of breath
    Pale appearance
    Leg ulcers
    Yellow discoloration of skin (jaundice)
    Facial bone deformities
    Slow growth
    Protruding abdomen
    Easy fracturing
    Dark urine

    How is thalassemia diagnosed?
    Detection of thalassemia could be done at two stages: one in the unborn baby and secondly in the neonates or even in the adults. Actually, the proper cure of Thalassemia is possible only when an individual is detected at anytime in his lifetime, best at the neonatal stage and if has not been done on this stage, it should be deliberated at pre-marital stage. Also thalassemia testing should become a policy in the pre-pregnancy or peri-pregnancy state. Here mentioned are the various methods of prenatal and postnasal testing.


    Prenatal Testing Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in unborn babies include:

    Chorionic villus sampling: This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.

    Amniocentesis: This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the baby.

    Fetal blood sampling: This test can be performed after 18 weeks of gestation and involves taking blood from the fetus or the blood vessels in the umbilical cord using an ultrasound guided needle.

    Postnatal testing: Tests that are necessary to be done in neonatatal state or adulthood will help in the possible treatments and management of thalassemia

    Microscopic observations: Red blood cells will appear small and abnormally shaped when looked at under a microscope.

    Bone marrow examination: Though not required, but is often used as a diagnostic tool to detect normoblastic erythroid hyperplasia.

    Hematological testing: A complete blood count CBC profile reveals anemia,

    Organ dysfunction test: This should be done periodically to check upon the normal functioning of organs. Tests may include Serum Glutamic Oxaloacetic Transaminase (SGOT), Serum Glutamic Pyruvic Transaminase (SGPT) Gamma-Glutamyl Transpeptidase or Gamma-Glutamyl Transferase (GGT), serum bilirubin, Serum calcium, serum creatinine etc.

    High Alerts: Thalassemia major individuals are often in miserable state as they have to get blood transfusions, failing to which would be fatal. On the other hand, if they do get transfused, several other complications arise along with the blood transfusions. Let us see what are the major complications of thalassemia:
    Iron overload: Kids who have beta thalassemia can end up with too much iron in their bodies, either from the disorder itself or from getting repeated blood transfusions. Excess iron can cause damage to the heart, liver and endocrine system.

    Bone deformities and broken bones : The bone marrow works at an extraordinary pace in an attempt to compensate for anemia. As a result, the marrow cavity within the bones is stuffed with red cell precursors. These cells gradually cause the bone to "mold" and flair out. This makes the bone more likely to break and can lead toabnormal bone structure, particularly in the ones of the face and skull.

    Enlarged spleen (splenomegaly): The spleen helps fight off infections and filters out unwanted materials, such as dead or damaged blood cells, from the blood stream. Beta thalassemia can cause red blood cells to die off at afaster rate, making the spleen work harder. The result is a spleen that is often ten times larger than normal.
    Infections: Children with beta thalassemia have a higher risk of infection, especially if they've had their spleens removed.
    Slower growth rates: Patients with hemoglobin H disease and beta thalassemia often are small and appear malnourished, despite good food intake. This feature results from the tremendous amount of energy that goes into the production of new red cells at an extremely accelerated pace. This can cause children to grow more slowly and also can lead to delayed puberty.
    Heart problems: Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmia), may be associated with severe thalassemia.

    Is thalassemia curable?
    Thalassemia could be cured if there is enough awareness, education, knowledge and prevention. Treatment for thalassemia depends on the severity of the condition. Thalassemia may be mild, moderate or severe.
    Mild thalassemia- is the most common form and does not require treatment.
    Moderate thalassemia - (thalassemia intermedia and more severe hemoglobin H disease) may be treated with:
    Folic acid: People with thalassemia often lack enough folic acid (a vitamin that your body needs to produce new red blood cells) in their diets to keep a good supply of red blood cells.

    Regular blood transfusions: A child with severe thalassemia typically starts to have symptoms when he or she is 6 months old, reflecting the hemoglobin count less than 7g/dL and will need blood transfusions every 4 to 6 weeks. Chronic transfusions therapy eliminates many complications of severe thalassemia. Clinical assessment decides the pattern of transfusions The transfusions often lead to infections with deadly viruses like HIV or Hepatitis and increased iron levels, which also may require treatment.

    Folic acid:
    As discussed earlier, a person with thalassemia needs Folic acid supplements because red blood cells are destroyed faster than normal. As a result, the body often uses up its stores of this vitamin.

    Hypersplenism or enlargement of spleen increases the transfusion needs upto 30% as it destroys the damaged red blood cell at a heightened speed. Hence the surgical removal of the spleen known as splenectomy becomes necessary. This reduces the frequent needs of blood transfusions but has some post surgical complications such as post-splenectomy sepsis.

    Chelation therapy:
    Now we understand that iron overload is one of major complications related to thalassemia as the outcome of regular blood transfusions. To remove this excess iron, some chemical agents either in form of medications or as natural substances known as chelating agents are recommended. Deferoxamine, Deferiprone and Deferasirox are some or the chelators used in the removal of excess iron from the body. Deferoxamine is a parenteral chelator whereas Deferiprone and Deferasirox are oral chelators.

    Bone marrow transplant:
    This treatment can cure severe thalassemia, but it must be done before problems related to excess iron stored in the body develop and also the bone marrow of the donor should match that of the recipient. However the patients are prone to bacterial or fungal infections. They are also at a higher risk to get viral infections for example, herpes or cytomegaloviruses.

    Cord stem cell transplant:
    This procedure involves taking stem cells from the umbilical cord of a newborn. These stem cells are then injected into a child who has severe thalassemia. The donor is most often a brother or sister of the child. But the umbilical cord can also come from an unrelated donor from an umbilical cord blood bank.


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