Thalassemia - Cause, symptoms and Cure

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Thalassemia is a genetic disorder characterized by lesser number of Red Blood Cells (R.B.C.) and hemoglobin.  R.B.C.s contains hemoglobin, an iron-rich protein that carries oxygen from lungs to all parts of body. Normal hemoglobin (hemoglobin A) is composed of four protein chains, two alpha goblin and two beta globin. These Genes regulate the bio-synthesis of hemoglobin protein chains. Lack of oxygen or oxygen deficit due to presence of lesser number of R.B.C and hemoglobin in bloodstream causes the signs and symptoms of thalassemias.

Thalassemias can lead to signs such as an enlarged spleen, poor appetite, fussiness, frequent infections, pale and listless appearance, , liver infection --Jaundice (a yellow colourish appearance in white portion of eye), Bone problems ( bones of the face area), Dark urine ( signal of red blood cells breaking down), slowed growth  or a delayed puberty. Further, Thalassemia results in excessive destruction of red blood cells, causing anemia.

Four alpha goblin genes (located on chromosome 16 of human genome sequence), two from each parent, are required to make enough alpha globin protein chains.

 Alpha thalassemias trait is a condition where one or two of the four genes are missing from body’s gene pool. Each child (offspring) has a 25 percent chance of genetic inheritance of alpha thalassemia from parents i.e. F1 generation having two missing genes and two normal genes (thalassemias trait), or 25 percent chance of genetic inheritance from parents i.e. F1 generation having three missing genes and one normal gene (hemoglobin H disease), or 25 percent chance of genetic inheritance from parents i.e. F1 generation having four normal genes (no anemia), or 25 percent chance of genetic inheritance from parents i.e. F1 generation having or one missing gene and three normal genes (silent carrier).

Two beta goblin genes (located on chromosome 25 of human genome sequence), one from each parent, are needed to modulate the production of sufficient beta goblin protein chains. Each child (offspring) has a 25 percent chance of genetic inheritance from parents i.e. F1 generation having two normal genes (no anemia), or a 50 percent chance of genetic inheritance from parents i.e.  F1 generation having one altered gene and one normal gene (beta thalassemia trait), or a 25 percent chance of genetic inheritance from parents i.e. F1 generation having of two altered genes (beta thalassemia major).

When some or all of globlin genes are missing or altered in offspring, two prominent thalassemias defects namely alpha and beta thalassemias occur.

Demographic population belonging to Italian, Greek, Middle Eastern, Southern Asian, and African descent are more risk prone to frequent occurrences of Thalassemias.

You should consult a physician immediately if you have symptoms of thalassemia or when you develop symptoms while on medication for the disorder.

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A blood sample should be tested in laboratory to check for the following signs and symptoms

  • Red blood cells will appear small and abnormally shaped when looked at under a microscope. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.
  •  Thalassemic people have fewer healthy red blood cells and less hemoglobin than normal in their blood.
  • A complete blood count (CBC) reveals anemia.
  • A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
  • A test called mutational analysis can help detect alpha thalassemia.

Doctors use three standard treatments blood transfusions, iron chelation therapy, and folic acid supplements for moderate and severe forms of thalassemia.

Life span of Red blood Cells in humans is 120 days. Repeated transfusions through intravenous route may be required to maintain a healthy supply of red blood cells. This procedure usually completed in 1 to 4 hours and provides healthy red blood cells with normal hemoglobin

Regular blood transfusion leads to excessive blood levels in blood stream known as iron overload (excess amount of iron is stored first in liver and then transported to heart)  leading to damage to internal organs liver, heart. The Iron Chelation therapy involves use of two medicines—Defroxamine (liquid pill available under brand names-- DESFERAL inj) administered subcutaneously (under the skin) and Deferasirox (pills available under brand name-- defrijet). However caution needs to be exercised as these medicine have side effects Desferal inj-- problems  with vision and hearing and defrijet—headache, nausea, joint pain, tiredness, diarrhea.

Additionally your doctor can prescribe Folic Acid Vit.B supplement to promote formation of healthy R.B.C.s. The blood and marrow stem transplant techniques are still under R&D and experimentation stages to determine the effectiveness as a cure to treat thalassemias.

Coping and rehabilitation for thalassemias involves commitment to follow therapy and prescriptions as advised by your physician. Further you should have following tests included and diagnosed in your monthly and annual medical checkup.

You should get a monthly complete blood counts and tests for blood iron levels every quarter. Yearly tests to check for iron buildup in your liver can provide health assurance against thalassemia. The provisions for yearly tests for heart function, liver function should be place  and properly planned in consultation with your doctor. Regular checkup be done to ensure blood transfusion is functional and meeting health standards. Yearly vision and hearing tests should be done to provide healthcare data to your doctor on prognosis for thalassemia.

In case your spleen is removed you may need to have vaccination for the flu, hepatitis B, pneumonia, and meningitis on your doctor’s advice.

In case a young adult is diagnosed for thalassemia, you need to address the feeling of fear, anxiety, depression, or stress with emotional support and counseling.

Dietary adaptations are highly recommended to meet body’s nutritutional requirement for iron.  Some foods like orange juice can enhance iron absorption, while others, like tea, coffee can decrease absorption.

Consider including foods cereals such as Wheat bran, oats, rice maize and soy and dairy products that decrease iron absorption if your experience an iron overload.

Alternatively add food ingredients such as fruit and vegetables, meat, fish, pickles, soy sauce, vinegar to increase iron absorption in body.

Food ingredients rich in iron such as liver, oysters, peanut butter, beans; cereals such as cream of wheat, flour tortillas, infant cereals; fruit and vegetable sources such as broccoli, fava beans, leafy green vegetables, prunes, prunes juices, peas, raisins, spinach, watermelon needs to be restricted or avoided to cure thalassemia.

In Thalassemias, the storage of excess quantity of iron in the body (liver and heart), leads to a higher risk of oxidative damage. Vit. E rich food such as vegetable oils (olive, palm, safflower and soya oil), dairy products, nuts, cereals, eggs and meat can add-up to the required quantity of antioxidants needed by your body.

 

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