KOCHI: With an aim to create awareness, extend support to patients and their families, World Thalassemia Day is observed on Sunday. According to experts, the key in battling the genetic disorder is identifying it in early stages and ensuring a strong support system from the caregivers.
Thalassemia, the genetic blood disorder in which the body fails to create enough hemoglobin, causes a series of problems including anaemia, shortness of breath, extreme fatigue and heart issues. “The battle is real but it is treatable. Blood transfusion is the main treatment involved. The transfusion requirement of a severely affected person is once in three weeks without which their growth and development are affected. Without financial support from government programmes and other public initiatives, the current treatment protocols are not affordable to most of the affected patient families,” said Dr Rema G, assistant professor, clinical hematology and stem cell transplantation, Amrita Hospital, Kochi.
According to Union Health Ministry, around 10,000 to 15,000 infants are born each year in India with thalassemia major. In Kerala too numbers are high, opine experts. During the pandemic times, there was difficulty for the patients to get Packed Red Blood Cell (PRBC).
“Safe filtered and oral chelating medicines have been made available under the supervision of district nodal officers for thalassemic patients through the active involvement of the government in Kerala. More than 90 per cent thalassemic patients worldwide faced shortages of PRBC supply during Covid pandemic due to restrictions of at least 28 days from Covid negativity to donate blood products,” said Dr Rema. In some cases, parents are silent carriers of this condition and both of them can pass on the disease to their children. “It is very important to identify the disorder in parents for early detection in children. Wide range of transfusion treatments are available. However, if not treated properly with chelation and transfusion it could lead to complications,” said Dr Rajan K, a hematologist based in Malappuram.
World Thalassemia Day: may 8
What is thalassemia?
Thalassemia is an inherited disorder of the protein part of hemoglobin pigment of the red blood cells because of which the red blood cell gets destroyed before its normal life duration of 120 days is reached.
How it occurs?
Usually both parents of the patient are carriers of the defective gene but do not require blood transfusion support which makes them unaware of their underlying issue. The affected baby develops severe anaemia requiring transfusion support before they reach 2 years.
How it can be detected?
Hemoglobin analysis by electrophoresis, high performance liquid chromatography and genetic mutation analysis sequencing.
Treatments
Supportive transfusions along with chelation of excess iron has been the treatment available for the past 4-5 decades. Chelation is the process by which the insoluble iron molecule is made soluble and thereby making it possible to excrete. Adequately transfused and chelated patient is expected to have normal growth and achieves sexual maturity. Stem cell transplant with full matched siblings is the first available treatment with curative potential. Gene therapy also exists.