Thalassemia: Meaning, Causes, Types, Symptoms & Treatment

Thalassemia is a disease which majorly causes fatigue and anaemia. It is an inherited disease transferred to children from parents. If one individual suffers from mild thalassemia, he/she might not need medical attention, but in case of severe condition, regular blood transfusions and several years of medical treatment is required to cure this disease.

Keyterms: Thalassemia, fatigue, anaemia, Blood, inherited disease, blood transfusions, red blood cells, blood disorder

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Definition of Thalassemia

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Thalassemia can be classified as a blood disorder which is inherited by an individual which affects his or her body’s ability to produce red blood cells & haemoglobin. An individual suffering from thalassemia will have too less red blood cells (RBC) which are too small, and very little haemoglobin. Every year, about 100,000 newborns are affected with the severe level of thalassemia. People mostly in Mediterranean regions, Turkey, Greece, Middle East, South Asian and African countries are affected by thalassemia. Thalassemia can be so severe that it might cause death as well.

Thalassemia is a type of Mendelian disorder that is generally caused due to alteration or mutation in one single gene. There are various other similar diseases caused due to this disorder like cystic fibrosis, Phenylketonuria, Haemophilia, Colour Blindness, etc.

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Types of Thalassemia

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Generally, in Medical Science, Thalassemia is classified into two specific types:

• Alpha- Thalassemia- in which there is mutation or abnormality in one of the genes of alpha-globin.
• Beta – Thalassemia – the genes of beta- globin are totally abnormal.
• Thalassemia Minor

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Symptoms of Thalassemia

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On the basis of the type of thalassemia, the symptoms of thalassemia also differ. Symptoms are visible on the new-born babies after 6 months. After that the symptoms slowly starts appearing. The common symptoms include:

• Excessive tiredness and fatigue
• Delayed development and growth
• Bone deformities (Osteoporosis)
• Jaundice and pale skin
• Chest pain
• Drowsiness
• Cold hands and feet
• Poor feeding
• Headache
• Greater susceptibility to infections
• Rapid heart beat
• Cramps in leg
• Dark Urine
• Shortness in breath
• Skeletal deformities

If an individual has too much iron in his/her body, it can also lead to harm in spleen, heart and liver. Iron can also lead accumulation from blood transfusion. Gallstones are commonly developed in the individuals having haemoglobin H. If thalassemia is left untreated, it may even lead to organ failure.

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Varieties of thalassemia

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• Alpha- thalassemia has been named in two different forms- Hydrops fetalis & Haemoglobin H disease. The Haemoglobin H disease may cause bone complexities. The jaw, cheeks and forehead might overgrow. Further causes by Haemoglobin H disease are:
  • Malnourishment
  • Intensely enlarged spleen

• Beta- thalassemia too occurs in two forms – thalassemia intermedia & thalassemia major. This is kind of a very serious thalassemia. This symptom generally occurs in a child after his/ her one year of age, mostly before 2nd year. Major symptoms are:
  • Jaundice
  • Poor appetite
  • Fussiness
  • Paleness

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Causes of Thalassemia

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Thalassemia is generally caused due to the abnormality in one of the genes which were involved in the haemoglobin production and this abnormality is inherited by the children from their parents. The oxygen is transported to the entire body by the blood cells are done with the help of protein haemoglobin. The Bone Marrow then uses the iron that is obtained from food to make haemoglobin.

People suffering from thalassemia do not have enough haemoglobin in their body as the bone marrow fails to produce the required amount of haemoglobin that leads to lack of oxygen and results in further diseases like fatigue & anaemia. Severe level of thalassemia requires regular blood transfusions.

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Treatments of Thalassemia

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Thalassemia is treated on the basis of its type of severity of the disease. Some of the best treatments that are given for this disease are:

• Blood Transfusion
• Supplement & Medication
• Bone Marrow Transplant (BMT)

Patients who undergo the blood transfusion process receive extra iron which the body cannot loose. To eliminate that extra iron, they would have to get a chelation therapy in which the body is provided that combines with other heavy metals & iron to eliminate the extra iron from the body.

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Diagnosis of Thalassemia

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Few of the diagnosis are done by doctors to check the level of severity of thalassemia & blood tests to detect if the individual is having the disease or not. Some of those diagnoses are:

• Genetic Testing: in this, DNA analysis with which it will be detected whether a person has thalassemia or faulty genes
• Prenatal Testing: This shows whether a foetus is having thalassemia and its level of severity. It is done in two processes:

- Amniocentesis in which sample of amniotic fluid is taken for testing in the 16th week of pregnancy. It is the fluid which surrounds the foetus.

- Chronic Villus Sampling (CVS) in which piece of placenta is removed for testing purpose during the 11th week of pregnancy.

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Prevention of Thalassemia

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Prevention of thalassemia is sort of impossible as this disease is genetically inherited. This disease can be detected before birth through prenatal tests.

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Things to Remember

• Thalassemia is caused mainly because of abnormal haemoglobin synthesis
• In case of minor thalassemia, symptoms are nearly noticeable.
• Over 100,00 new-born babies are born worldwide with thalassemia every year
• Thalassemia has two major varieties- Alpha-thalassemia & Beta- Thalassemia
• Thalassemia leads to destruction of red blood cells which results in anaemia
• Prenatal testing is done within 11 weeks to 16 weeks for thalassemia
• This subtopic is covered in the Class 12 Biology syllabus in Chapter 5 – Principles of Inheritance & Variation. This Subtopic carries 2-3 marks in Examinations whereas; the Overall Chapter carries 5-6 marks in CBSE Board Examination.