Thalassemia: Symptoms, Causes and Prevention

We know, hemoglobin is the most important protein molecule in our red blood cells that carries oxygen to all parts of the body. This highly important substance is the targeted cause of the thalassemia.

Thalassemia, an inherited blood disorder is the result of an unusual form of hemoglobin and then the excessive destruction of red blood cells. It is actually caused by either a genetic mutation or a deletion of certain key gene fragments.

Symptoms of thalassemia

Symptoms are not visible always. They appear obvious with rising age and according to the types of thalassemia. Some common symptoms of thalassemia are-

  • Fatigue, weakness, chest pain, shortness of breath, leg cramps, rapid heartbeat, headaches
  • Dark urine, yellow or pale skin (jaundice)
  • Bone deformities (In the face particularly), slow growth and development, abdominal swelling, poor feeding, abnormal bleeding

Skeletal deformities may result in an excessive production of bone marrow. A serious complication of this disorder that, it can lead to organ failure.

Thalassemia: Types, Diagnosis, and Treatment

What are the chances of getting Thalassemia?

Thalassemia occurs particularly when there is a deformity in one of the genes participating in hemoglobin production. People who have only single gene affected do not show any symptoms. It mostly obtains from parents so it called an inherited disorder.

Single gene infected is simply meant only one of the parents is a carrier for thalassemia and is known as thalassemia minor. It probably does not show any symptoms of this type but a person is a carrier of the disease.

If in case, both parents are carriers of thalassemia then you are at greater risk of inheriting the serious form of it. The mutations associated with thalassemia are passed from parents to children.

As we learned thalassemia disrupts normal mutations in the DNA that produces hemoglobin causes anemia. It eventually leaves your body starved for oxygen and you fatigued.

The Prevention

Thalassemia, which is not serious, may not require treatment but serious type of this disorder require treatment like a regular blood transfusion. Complications vary in this disorder and possible few are contracting hepatitis A or B, bone deformities heart problems, diabetes-like severe difficulties.

It requires constant medical care to control this condition effectively. A person with thalassemia need to take precautions as follows-

  • It is always important to be aware of any disorder or any abnormality in health. Thalassemia is an incurable disease, therefore, it needs prevention.
  • If you find any such symptoms or planning for a baby (for gene carriers) keep in touch with your genetic counselor
  • Blood transfusion receiver strictly follow their transfusion and chelation schedule
  • They should attend their regular appointments with their physicist
  • Try to keep your attitude positive
  • Follow a healthy diet
  • Stay tuned for your daily exercises
  • Avoid taking iron-rich food
  • Keep vaccination up to date to prevent illness (More important for those who receive blood transfusion)
  • A continuous education model for medical staff is required
  • The government must motivate gynecologists and pathologies to ensure every pregnant woman goes through the HbA2 test before week 14 of pregnancy

Thalassemia is becoming one of the serious and incurable inherited disorder since around 1 lakh newborns are born with a severe type of thalassemia every year.

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Thalassemia: Types, Diagnosis and Treatment

Thalassemia is an inherited blood disorder that disrupts hemoglobin production which leads to anemia. Its impact can sometimes be life-threatening. This disorder though inherited...


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