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Thalassemia: Types, Causes, Symptoms, Diagnosis, Treatment

Have you come across the term “Thalassemia” or “Cooley’s Anemia”? Well! Thalassemia representing the most common monogenetic disorders in the entire world; is a kind of blood disorder where the body fails to produce enough of red blood cells or where the production of excess of RBC content is destructed and produces lesser hemoglobin which further leads to anemia.


There are mainly two forms of Thalassemia; one being mild or minor and other the major thalassemia. Taking a look at the two types of this inherited blood disorder, we get to know there are mainly two main types including Alpha Thalassemia and Beta Thalassemia. We will go through in detail in the following array of our article.

A Brief Knowledge About Thalassemia: Introduction, Forms And Types!

Thalassemia is a blood disorder or a group of blood disorders that is passed down the families and where there is an abnormal hemoglobin production in the sufferer. Hemoglobin is the oxygen carrying protein (Globulin) & Iron (or Heme) mixture, in Red blood cells that is made of two proteins namely Alpha and Beta. Based upon this, thalassemia is categorized into two main types including Alpha Thalassemia and Beta Thalassemia.

  • In case of Alpha Thalassemia; the gene/genes that are related to alpha protein in RBC, are missing or mutated and thus resulting in lower production of alpha globulin.
  • In case of Beta Thalassemia; the gene/genes which are linked ti beta protein in RBC, are missing or changed resulting in a reduced production of beta globulin in blood.

Now coming to the two most common forms of this blood disorder, there are mainly two forms of thalassemia, including Thalassemia Minor (Mild) and Thalassemia Major (Severe). The mild form might not be showing any of the major or noted symptoms and might not also be requiring any treatments. However the sever e form shows various noticeable symptoms and needs strict treatments lifelong, including the regular blood transfusion.

Causes of Thalassemia:

Coming down to the causes of this blood disorder, here we can mention as follows.

  • Thalassemia Minor is caused when the victim receives one defective gene from the carrier parent.
  • Major form of Thalassemia is caused when the sufferer receives the defective genes from both the parents, i.e. when both the parents are suffering from a Minor form of Thalassemia. The Beta Thalassemia Major conditions or BTM is severely dangerous and the patient suffering risks in life.

Symptoms of Thalassemia:

Now diving down to the Symptoms of Thalassemia; it is seen that thalassemic patients usually suffer from Jaundice, fatigue, cold hands & feet, pale skin, breath shortening, poor appetite, delayed growth & delayed puberty, enhanced susceptibility to infection and sometimes skeletal deformations. Now coming down the list in a clear way;

  • Minor form of Thalassemia does not show any noted symptoms.
  • Major form of Alpha thalassemia, usually meet with stillbirth or birth before delivery or the death of an unborn baby.
  • However children born with a major form of Alpha Thalassemia suffers from symptoms (previously mentioned in the article) like fatigue, chest pain, shortness of breath, pale skin, skeletal deformities etc.
  • Patients with Beta Thalassemia Major or Cooley’s Anemia have a higher risk of life and live with blood transfusion for rest of life. BTI or the Beta Thalassemia Intermedia condition can show symptoms like mild anemia and they vary from person to person.

Diagnosis and Treatments For Thalassemia:

As the saying goes, “When life gives you a battle, fight for being with it. No matter you win or lose; but be in the fight.” Here it makes all know, if one is suffering from the severe thalassemia or severe Cooley’s anemia; he or she must not lose before the disorder has won over the life. Check out the various treatment procedures available for patients with Moderate to severe Thalassemia.

Diagnosing Thalassemia:

“It is always better to confirm about things when in doubt.” The need for diagnosis of Thalassemia begins with the arrival of symptoms. Usually noticeable symptoms start coming by the end of the child’s second year. And with this begins the tests or the diagnosis. There are tests like Complete Blood count, A Reticulocyte count, Genetic testing, studies on iron content, etc. help in knowing if the child is suffering from Thalassemia and then begins the treatments.

Nowadays there are so many fair prenatal tests done for confirming about if the fetus inside the mother’s womb is showing symptoms of thalassemia or suffering with the same. Amniocentesis and Chorionic villus sampling are two most known such prenatal testing for thalassemia. Amniocentesis involves the sample test of a little amount of amniotic fluid during the 16th week of pregnancy. For Chorionic Villus sample test, a piece of placenta is taken for the diagnosis during the 11th week of pregnancy.

Treatment Options For Thalassemia:

So now comes the real fight for the severe blood disorder. People with BTM condition suffer from some complications that actually have a greater risk for life. There are chances of an enlarged spleen, liver complications like hepatitis or enlarged liver, bone complications like osteoporosis, complications of heartbeats i.e. arrhythmia etc.

Now Let us read below about various treatment procedures available for Moderate to Severe Thalassemia patients; especially the BTM patients.

  • Blood Transfusion: This is the widely used process for treating Thalassemia, where the patients are subjected to blood transfusion on a regular basis. Usually moderate to slightly severe sufferers, require the transfusion every four months. However, for severe Thalassemia patients, there is a mandatory need of blood transfusion every two to four weeks. There are cases where even mild sufferers require blood transfusion, in case of severe illness.
  • Iron Chelation: The Iron chelation is another treatment procedure where the excessive iron content is removed from the bloodstream. Usually with blood transfusions, the iron level increases highly which might cause severe problems to heart and other visceral organs. Iron chelation treatment procedure can help you get rid of this.
  • Bone Marrow Stem Cell Transplant: Stem cell therapy has shown great success in recent years. The spongy tissues found in between the hollow space of large bones and which produce RBC, WBC and platelets; are the bone marrows. Bone marrow transplant of stem cell treatment for Thalassemia has impressive results and is considered to be the most effective treatment for this inherited blood disorder.

A Motivational Speech For Thalassemic Patients:

It is true that Life Expectancy of a patient suffering from BTM or Beta Thalassemia major is usually 17 years on an average. But there is always a saying, “You cannot leave your life untreated because you know you are finishing up soon. The greatest trick to live a shorter life span is living it doubly. Live life every single day; because we actually live every day; we just die only once.”


  1. National Heart, Lung, and Blood Institute. (2022). What is Thalassemia? Retrieved from https://www.nhlbi.nih.gov/health-topics/thalassemia
  2. Mayo Clinic. (2022). Thalassemia. Retrieved from https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995
  3. Centers for Disease Control and Prevention. (2021). Thalassemia. Retrieved from https://www.cdc.gov/ncbddd/thalassemia/index.html
  4. American Society of Hematology. (n.d.). Thalassemia. Retrieved from https://www.hematology.org/education/patients/anemia/thalassemia
Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 17, 2023

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