Thalassemia prevention and management: key considerations

Efforts must be made to motivate gynecologists and pathologies to ensure that everypregnant woman goes through the HbA2 test before 14 weeks of pregnancy.

By: Editorial Team | | Published: May 8, 2018 4:20 pm

A congenital hemolytic disorder, thalassemia refers to a spectrum of genetic blood disorders, involving the absence of or errors in genes responsible for producing hemoglobin.A person with thalassemia has very less number of red blood cells, which may also be small in size. The resultant impact can range from mild to severe and at times, even life-threatening. India has about 40 million carriers of thalassemia and over 1,00,000 thalassemia majors are under blood transfusion everymonth. People need to be made aware that the prevention and management of this condition involves prenatal counselling and tests done in a timely manner. This will not only help in early detection but also in making informed decisions.

Ignorance about thalassemia and lack of awareness delays diagnosis due to whichpeople end up transferring faulty genes to their children. Even if there is one parent with traitsof thalassemia minor, the chances of having a child with thalassemia minor are about 50%. Theprobability becomes 25% if both parents are carriers of thalassemia minor. It is imperative toget newborns tested at birth. The symptoms do not start appearing until the child is 6 months as neonates have a different type of hemoglobin, called fetal hemoglobin. After 6 months, this is replaced by “normal” hemoglobin.

Types of thalassemia and symptoms

The type of thalassemia a person has depends on which part of the hemoglobin molecule is under produced. Beta thalassemia is the most common condition where low hemoglobin levels lead to a lack of oxygen in many parts of the body. In alpha thalassemia one or more genes controlling the production of alpha hemoglobin is either defective or completely absent. This condition can also lead to mild anemia.

Some symptoms of thalassemia include fatigue, pale skin, cold hands and feet, shortness of breath, and headaches. In alpha thalassemia, a person can experience chest pain, drowsiness, and dizziness. Those with beta thalassemia can exhibit delayed growth (in kids), skeletal deformities, excessive iron, increased infections, and delayed puberty.

Prevention

Prevention of thalassemia involves more than just awareness about the condition. Some other strategies that can be adopted are as follows.

Screening: Timely screening among likely carriers is an important aspect of thalassemia prevention. Young couples or women planning to conceive must undergo tests to detectwhether they carry thalassemia traits.

Genetic counselling and prenatal diagnosis: Genetic counselling should be provided to carriers. It is also mandatory to make prenatal diagnosis available for couples to make a decision on whether they wish to continue the pregnancy.Suchdiagnosis is carried out in the 10th to 13th week of pregnancy.

Treatment and management

Treatment for thalassemia depends on the type and severity of the disease. While those in the initial stages may need medications and supplements, in advanced stages a bone marrow transplant and surgery may become necessary. Those who undergo blood transfusions accumulate excess iron which can prove fatal. Such people are given what is called iron chelation therapy.

There are also certain steps one can take to manage this condition in the longer term.

Thalassemic people are prone to infections especially those in whom the spleen has been removed. Any fever can indicate infection and thus, it is important to undergo an examination at regular intervals.
A healthy diet containing all essential nutrients and one that is low in fat is advised for people with thalassemia. It is important to avoid a diet rich in iron.
Staying active with lighter exercises such as walking, or swimming can prove beneficial. However, heavy activities should be avoided.

In conclusion

While detection, prevention, and management are important, there is also a need to ensure that the government comes up with policies that are conducive for making treatment more cost effective for those who cannot afford it. In addition, efforts must be made to motivate gynecologists and pathologies to ensure that everypregnant woman goes through the HbA2 test before 14 weeks of pregnancy as this can help intimely diagnosis of thalassemia.

By Dr GarimaShama, General Physician on Lybrate

Published : May 8, 2018 4:20 pm

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