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Key Information About Thalassemia

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Hemoglobin is an iron-rich protein in red blood cells (RBC). Oxygen entering the lungs attaches to the hemoglobin in the blood, which carries it to the tissues in the body.

Thalassemia is an inherited blood disorder. It is characterized by less hemoglobin and fewer RBC in the body than normal.

India, which is considered the thalassemia capital of the world, has more than 50 million carriers, that is 4 percent of the country's population.

“Words such as trait (minor or heterozygous - one gene defect), intermedia (both genes moderately affected), and major (homozygous- both genes severely affected) are used to describe how severe the thalassemia is,” said Abhay Bhave, Hematologist – CritiCare Asia Multispeciality Hospitals.

Red Blood Cell



Alpha thalassemia

Beta thalassemia


Thalassemia is a genetic disease. You inherit it from your parents; you have it from birth. You cannot catch thalassemia the way you catch a cold or the flu.

However, some experts in the field of medicine are of the opinion that lack of awareness is the main cause of thalassemia spread.



Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life.

Abnormal bone structure, especially in the face and skull, delayed growth and development, pale skin, anemia, abnormal heart rhythms, fatigue, dark urine, yellow skin and weakness are known symptoms of thalassemia.

The excess level of iron in the blood is a major cause of morbidity for thalassemia patients. Iron overload is a leading cause of mortality and organ injury.

The World Thalasseamia Day or International Thalasseamia Day is celebrated every year on May 8 to commemorate victims of the disease and to encourage those who are struggling to live with it.


If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests.

Genetic testing is available for HBB, HBA1and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.


The most common treatment for severe cases of thalassemia is regular blood transfusions to relieve the symptoms, which continue for life and have side-effects. The only cure currently available for this disease is bone marrow transplant.

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Iron chelation medicines, which are expensive but essential for thalassemia patients, need to be taken frequently.

Orchard Therapeutics, a London-based biotech company, is developing a gene therapy that may provide a better alternative to current treatments.

Hussein Al Blooshi, a Dubai teenager, underwent a thalassemia treatment known as haplo-identical bone marrow transplant in 2016 in Cleveland Clinic, Ohio, US. Today he is free from the disease.

Zynteglo is the new name for a treatment once known as LentiGlobin, a process that takes CD34+ cells from a patient’s hematopoietic stem cells, inserts functional copies of the βA-T87Q-globin gene, then reinfuses the modified HSCs. Patients are given chemotherapy to prime their bone marrows before the reinfusion.

Luspatercept-aamt injection is used to treat anemia in patients with beta thalassemia who need regular red blood cell (RBC) transfusions.

"Thalassemia is a curable condition that can be managed effectively with blood transfusions and chelation therapy," said Dr Sachin Suresh Jadhav, Group HOD – Haematology and Bone Marrow Transplant, HCG Cancer Hospital.

Bone Marrow

Wikimedia Commons

Wikimedia Commons

Never give up hope.

— Hussein Al Blooshi, a thalassemia survivor


There is an undeniable need to focus on prevention strategies to reduce the transmission of the thalassemia gene from parent to offspring.

Preventing the birth of new cases is considered the best approach for controlling thalassemia for which screening for thalassemia carriers is needed.

Carrier screening is the most effective means of controlling the prevalence of alpha-thalassemia.

Nucleic Acid Testing technology (NAT) screening ensures 99.99 percent blood safety. It should be made available in all government hospitals.

Increasing awareness about testing for thalassemia among first-time expectant parents will help in preventing. Testing during pregnancy or soon after birth gives an early diagnosis.

— Dr Neema Bhat, Consultant, Paediatric Haematology-Oncology and BMT Physician.

Bollywood Celebs Spread Awareness About Thalassaemia

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2019 Srikanth R

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