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Improved blood transfusion and availability of bone marrow transplantation are key advances in treatment of thalassemia

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Advancements in blood transfusion techniques and availability of bone marrow transplantation as the only curative treatment option are key to controlling thalassemia, stated medical experts associated with Nanavati Super Speciality Hospital (NSSH) on the occasion of World Thalassemia Day, May 8. Thalassemia can broadly be defined as an inherited hematologic disorder caused by defects in one or more haemoglobin chains and is categorized into alpha thalassemia and beta thalassemia.

“India comes in the high danger thalassemia belt with a high number of the global thalassemia patients coming from the country. Twenty eight genetic mutations are prevalent in India. Education & awareness, community carrier screening, extended family screening, new-born screening, premarital screening and pre-pregnancy screening play a pertinent role in diagnosing the early diagnosis of thalassemia,”stated Dr. Nimish Kulkarni, Associate Consultant, Department of Haemoto-Oncology & Bone Marrow Transplant, NSSH.
A newborn carries a linked pair of beta globin genes from both parents. Defect in one can lead to beta thalassemia minor and defect in both leads to beta thalassemia major. Comparatively Alpha Thalassemia is relatively uncommon and those who are severely affected don’t survive at birth.

Commenting on the different variations of thalassemia, Dr. Niranjan Rathod, HOD, Haemato-Oncology Department, NSSH stated, “Beta thalassemia minor is largely asymptomatic. Testing of spouses for same defect is essential before planning children. The clinical complications of beta thalassemia intermedia is less severe than beta thalassemia major and the treatment regimen includes RBC transfusion for anaemia, hydroxyurea and iron chelation in selected patients. Beta thalassemia major is the extreme version and can be treated with blood transfusion, effective iron chelation, timely splenectomy and bone marrow transplant in patients having suitable HLA match donor. BMT is the only curative treatment option and has a high success rate to tune of 90% if done between 2-5 years.”

High end infrastructure and experts required for BMT is selectively available in speciality hospitals like Nanavati Hospital. Children with thalassemia are largely susceptible to osteoporosis. Such children should be encouraged to engage in moderate physical activity, intake of calcium, Vitamin D and zinc supplements. Smoking is best to be avoided.

“Improvement in transfusion medicine remains an ongoing process primarily focused at increasing safety of blood transfusions. There is an immediate need of voluntary non-remunerative blood donors to come forward and importance needs to be accorded to pre-blood donation counselling to prevent transmission of viral infections,”stated Dr. Rinku Bhatia, Head of Blood Transfusion Department, NSSH.

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