Reviewed By: Pramod Kerkar, MD, FFARCSI

As thalassemia is a genetic disease thus the occurrence of this disease cannot be prevented. However, various measures are adopted to counsel the parents regarding the effect of this disease on baby and to interrupt pregnancy.

How To Prevent Thalassemia?

Thalassemia is a genetic disorder. Thus, it cannot be prevented. It is one of the common diseases involving autosomal recessive disorder. The disease has its occurrence most commonly in Central Asia, Indian subcontinent and the Middle East. As it involves the complications in the baby and that it is not possible for the patient to see the blood transfusion with high frequency and long hours to their baby. Various programs were started in many countries to prevent the pregnancy of such parents who are at high risk for transferring the disease to their babies. Following are the measures adopted through these programs:

Carrier Screening: Prior to the couple start preparing for having a bay, there should be a screening for confirmation whether any or both of the parents are carrier of certain genetic disease. Thus, genetic diagnosis is done to identify gene mutation.

Counseling: Counseling is an important approach for preventing the birth of babies suffering from thalassemia. Counseling can be done if both the partners are diagnosed with thalassemia major and the counselor should inform about the repercussion and effect on the baby’s health if he develops thalassemia. Another counseling is done if the fetus is found to have thalassemia and the counselor is persuading the couple to terminate pregnancy.

Prenatal Diagnosis: Prenatal diagnosis can be done, and genetic makeup of the fetus can be tested to diagnose thalassemia.

Preimplantation Diagnosis: If the pregnancy is achieved through in vitro fertilization, the cells which are to be implanted may undergo genetic testing for the diagnosis of various genetic diseases.

Public Awareness And Education: Intensive education program can prevent the occurrence of thalassemia by making aware the medical and health workers and the population. The people involved in such awareness include physicians, pediatricians, gynecologists, nurses and family planning counselors. Various methods for diagnosing the genetic makeup and methods for preventing the birth of the child suffering from thalassemia are discussed. The people involving in awareness program should take the information form the public like medical history, clinical symptoms and should provide them genetic counseling.

Interruption Of Pregnancy: Various countries have various laws related to the termination of pregnancy. In India, the termination of pregnancy is controlled by Medical termination of Pregnancy Act. If the fetus is conclusively found to have major form of thalassemia, the pregnancy can be terminated.

Thalassemia Causes

Thalassemia is a genetic disorder and the person acquired it from the parents. If both the parents are suffering from thalassemia minor, then there is 25% chance that the offspring suffer from thalassemia major, 50% chances that the offspring suffer from thalassemia minor and 25 % chances exists for offspring to be normal. The genes responsible for the development of thalassemia are HBB or hemoglobin subunit beta and HBA1 and HBA2 or hemoglobin subunit alpha. HBB gene is present on chromosome 11 while HBA1 and HBA2 are located on chromosome 16. The region of the chromosome 16 where the HBA1 and HBA2 are located is known as alpha-globin locus.

The severity of the thalassemia depends upon the number of genes that gets mutated. There are two copies of HBA1 and two copies of HBA2. Thus, if all the four genes get mutated, this result in severe form of alpha thalassemia called as thalassemia major which is characterized by severe anemia. As the number of mutated genes decreases, the severity of the disease gets decreased. Similarly, if all the HBB genes get mutated, the condition is known as beta-thalassemia major. The condition is generally transferred in autosomal recessive pattern; however, sometimes it may occur in an autosomal dominant manner.

Conclusion

Various methods that are used to prevent the occurrence of thalassemia include counseling, pre-implantation diagnosis, carrier screening, public awareness and education and interruption of pregnancy.

Also Read:

Pramod Kerkar

Written, Edited or Reviewed By:

, MD,FFARCSI

Pain Assist Inc.

Last Modified On: December 20, 2018

This article does not provide medical advice. See disclaimer

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