Thalassemia: Causes, Types, Symptoms, Treatments and Tests

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Introduction to THALASSEMIA

Thalassemia is an inherited blood disorder which is caused when the body does not make enough hemoglobin. Hemoglobin is the protein molecule found in red blood cells that carries oxygen. When there is not enough hemoglobin, the red blood cells won’t be able to function properly.
The disorder results in immoderate destruction of red blood cells, which leads to anemia. Anemia is a condition in which the body doesn’t have enough normal and healthy red blood cells.

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Causes of Thalassemia

Thalassemia is inherited, which means one of the parent either father or mother must be a carrier. It is caused by either a genetic mutation or deletion of certain gene fragments.
Hemoglobin is made up of different parts mainly called alpha chains and beta chains. In thalassemia, part of the hemoglobin is faulty- usually either the alpha chain or the beta chain. As a result, there is not enough normal hemoglobin and red blood cells that can break down easily.

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Types of Thalassemia

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There are two types of thalassemia known: Alpha thalassemia and Beta thalassemia.

1. Alpha thalassemia: Alpha thalassemia occurs if there are problems with some or all of the alpha-globin genes. Normally, a person has four alpha-globin. Alpha thalassemia occurs when one or more of the genes are absent or defective.

2. Beta thalassemia: Beta thalassemia occurs when there are problems with one or both beta-globin genes. This is the most common type of thalassemia. In beta-thalassemia, there is a decrease in the production of normal adult hemoglobin (Hb A), which is the predominating type of hemoglobin in our body. People with beta-thalassemia suffer a low level of hemoglobin leading to a lack of oxygen in various parts of the body.

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Symptoms of Thalassemia

Symptoms of thalassemia depends on the above-mentioned types.

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Most common symptoms are:

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• Jaundice and pale skin
• Drowsiness and fatigue
• Chest pain
• Cold hands and feet
• Shortness of breath
• Delayed growth
• Dizziness and faintness

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Tests For Thalassemia

Various laboratory tests may be used to detect thalassemia:

Complete blood count (CBC):

CBC is a measure for the calculation of the cells in the blood. Among other things, the CBC estimates the number of red blood cells present and how much hemoglobin is present in them. It shows shape and size of the red blood cells present, reported as the red cell indices. These include the mean corpuscular volume (MCV), a measurement of the size of the red blood cells. A low MCV is often the initial indication of thalassemia. If the MCV is low and iron deficiency has been shown normal, thalassemia should be considered.

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Blood Smear (Called peripheral smear and manual differential):

In blood smear test, a expert or trained laboratory technician examines a thin layer of blood that is treated with a specific stain, on a slide and observed under a high quality microscope. The number and type of white blood cells (WBC), red blood cells(RBC) and platelets are evaluated to see their conditions whether they are normal and mature. Thalassemia’s red blood cells generally appear smaller than normal (microcytic, low MCV). Red cells may also:

• Be paler than normal (hypochromic)
• Differ in size and shape (anisocytosis and poikilocytosis)
• Be nucleated (normal, mature RBCs do not have a nucleus)

• Have uneven hemoglobin distribution (producing “target cells” that looks like a bullseye under the microscope)

The greater the percentage of abnormal-looking red blood cells, the greater the likelihood of an underlying disorder and decreased the ability of the RBCs to carry oxygen.

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Iron studies.

These may include: Iron, ferritin, unsaturated iron-binding capacity (UIBC), total iron-binding capacity (TIBC), and percent saturation of transferrin. These tests estimate different aspects of the body’s iron storage and usage. The tests are ordered to help determine whether an iron deficiency is the cause of a person’s anemia. One or more of them may also be ordered to help monitor the degree of iron overload in an individual with thalassemia.

• Sometimes alpha thalassemia is confused with iron deficiency anemia because both disorders have smaller (microcytic) red blood cells than usual. If someone has thalassemia, his or her iron levels are not expected to be low. Iron therapy may not help people who are suffering from alpha thalassemia and may lead to iron overload in the body.

• Erythrocyte porphyrin tests are useful in distinguishing an unclear beta-thalassemia minor from lead poisoning and iron deficiency. Individuals having beta-thalassemia will have normal porphyrin levels but those with the latter conditions will have elevated porphyrin.

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Hemoglobinopathy (Hb) evaluation (hemoglobin electrophoresis)

This test detects the type and amounts of hemoglobin present in red blood cells. Hemoglobin A (Hb A), composed of both alpha and beta globin, is the type of hemoglobin that normally makes up 95% to 98% of hemoglobin in adults. Hemoglobin A2 (HbA2) is usually 2% to 3% of hemoglobin in adults, while hemoglobin F usually makes up less than 2%.

Beta thalassemia upsets the distribution of beta and alpha hemoglobin chain formation and causes an increase in those minor hemoglobin components. So, people with the beta-thalassemia major usually, have larger percentages of Hb F. Those people with beta-thalassemia minor usually have raised the fraction of Hb A2. Hb H is not so a common form of hemoglobin that may be seen in various cases of alpha thalassemia. Hb S is the hemoglobin more common in people with sickle cell disease.

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Hemoglobinopathy (Hb)

Hemoglobinopathy (Hb) evaluations are used for state-mandated infant hemoglobin screening and prenatal screening when parents are at threat for hemoglobin disorders.

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DNA Analysis.

These tests are used to help confirm mutations in the alpha and beta globin-producing genes. DNA testing is not something which is routinely done but it can be helpful in diagnosis of thalassemia and to determine the status of the carrier, if indicated.
Having family members who carry mutations for thalassemia increases a person’s risk of carrying the same mutant gene, family studies may be done to evaluate carrier status and the types of mutations present in other family members if deemed necessary by a healthcare practitioner.

Note: Always consult your physician before any test and treatment.

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Thalassemia Treatment

Treatment of thalassemia depends on the type and severity of thalassemia.

Some of the treatments include but are not restricted too:

1. Blood Transfusions: This can be helpful in the replenishment of hemoglobin and red blood cell levels.

2. Iron chelation: This involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. This can damage the heart and the other organs.

3. Bone marrow or spleen transplant:

Bone marrow cells produce red and white blood cells, hemoglobin and platelets. A transplant from a compatible donor may be an effective treatment.

4. Surgery: This may be necessary to correct bone marrow abnormalities.

5. Gene therapy:

Gene therapy is currently an investigating technique to treat thalassemia. One of the possibilities includes inserting a normal beta-globin gene into the patient’s bone marrow, or using drugs to reactivate the genes that produce fetal hemoglobin.

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Data Sources:

https://medlineplus.gov/ency/article/000587.htm
https://www.healthline.com/health/thalassemia
https://kidshealth.org/en/parents/beta-thalassemia.html
https://scholar.google.com/

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