Thalassemia is the most common inherited single-gene disease which significantly impairs the quality of life and shortens the life span. It is a notable health burden on society.
India can be considered as the thalassemia capital of the world. It is estimated that in India there are approximately 1-1.5 lakh children with thalassemia, and about 10-15000 are added by each year. This is a genetic disorder where there are 2 abnormal genes, one of which is inherited from each parent to cause the disease.
Parents with one abnormal gene are considered carriers and have no illnesses. In the general population, the average frequency of carriers is 3-4% and in some communities, the frequency is even higher.
Thalassemia can be classified into Thalassemia Major, Intermedia and Minor based on clinical severity. Children with Thalassemia Major require lifelong repeated blood transfusions that lead to increased iron storage in various body organs leading to complications and Thalassemia Intermedia the severity is variable.
Blood transfusion corrects the anaemia but loads the body with extra iron. There is no natural mechanism to clear the additional iron load. The extra iron should be removed from the body by chelation therapy. Bone marrow transplantation or more appropriately called Hematopoietic Stem Cell Transplantation is the only cure currently available for Thalassemia.
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How to manage Thalassemia?
To prevent complications, the lifetime transfusion and chelation should be meticulous. Children will need transfusions of PRBC (a blood component) every 2-4 weeks to manage their growth and normal activity.
Haemoglobin needs to be maintained above 9-10.5/dl at all times. Leukodepleted and NAT- (Nucleic acid testing for blood-borne infections) tested blood is preferable. Size of the liver, spleen, volume of blood given has to be noted and observed. Sometimes there may be an increased demand for blood transfusions due to various reasons.
Further testing might be required in those circumstances. Some kids may grow antibodies and may need more matched blood. Often increased blood requirement may be required due to large spleen and it may need care. Blood-borne diseases such as Hepatitis B, HIV, and Hepatitis C should be tested annually. In addition to other standard vaccinations, it should be ensured that all children receive the Hepatitis B vaccine.
Through each transfusion, the iron content in the body will increase. Iron is stored in organs such as the liver, heart, hormone-producing organs and causes complications. Medications are prescribed to reduce iron levels in the body which should be taken regularly and side effects need to be monitored. Medical assessments are performed periodically for problems in the liver, heart, and endocrine glands caused by iron overload.
Bone marrow transplantation is the only practically available curative treatment. This is a treatment option for children with a brother or sister associated with HLA. Younger kids, with no iron overload and with no liver or spleen enlargement, tolerate the procedure well. Children with Thalassemia and their siblings should be typed for HLA to find out if there is a match. For children with no HLA matched relatives, matched unrelated donors from registry on certain occasions partially matched family donors can be used for transplantation.
How to Prevent Thalassemia?
Effectively implementation of preventive strategies will bring down the incidence of childbirth with Thalassemia Major to near zero. This has been proven in other developed countries such as Italy. Couples, where both partners are carriers, have a 25% risk of having a child with Thalassemia Major, a 25% possibility of having a normal child and a 50 per cent chance of having a carrier child.
Carrier is asymptomatic but blood tests may detect them. Birth of children with Thalassemia can be avoided when both parents are carriers by timely prenatal diagnosis during pregnancy. Prenatal diagnosis can be made by detecting 2 defective genes in the fetus by taking a small sample from the placental tissue as early as 12 weeks.
In community and schools, children need to be educated about inherited genetic conditions such as thalassemia and screening programmes. Screening of the carrier can be initiated by screening teenagers at schools if families are willing.
The carrier status can be screened before marriage or when the couple is planning to have a baby. Commonly the screening of pregnant women initially and then the partner is screened if the potential mother is a carrier. If both are carriers the prenatal screening is advised for the baby. These tests have to be done quickly and efficiently for this strategy to work. For more details, you may seek medical help from the Best Pediatric Hematologist/Oncologist in Bangalore at Aster CMI Hospital.
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