Thalassemia

You were diagnosed thalassemia and blood transfusions are a part of your routine. You now want to plan a family and are not sure if your child too would fall prey to the disorder, and have a life crippled with repeated blood transfusions. You should know what you can do to ensure you have a healthy life and a normal baby.

Understanding thalassemia

Thalassemia, also called Mediterranean anemia, is a disorder that affects the red blood cells (RBCs). In this disorder, the oxygen carrying protein, called hemoglobin, is affected. This in turn causes excessive destruction of RBCs, and hence leads to anemia. Hemoglobin is made of two different chains called the alpha and beta chains. Depending upon the part of hemoglobin affected, there are two types of thalassemia, i.e., alpha-thalassemia and beta-thalassemia.

Thalassemia is a genetic disorder that is caused by defect in genes and is inherited in families when a copy of a defective gene passes from the parents to the children. For the disorder to occur, both parents should possess and pass the defective gene to the offspring. If only one parent passes the gene to the child, then the child does not develop the typical features of the disease. The child then develops a condition called thalassemia trait that does not need treatment. In this case, the child becomes a carrier of the defective gene.

The main risk factor for thalassemia is the defective gene running in the family. People who have a family member affected are at risk of developing the disease or passing it on the future generations. Certain ethnic groups have been identified for different thalassemias. These include the Asians, Chinese, and African Americans.

Symptoms

The symptoms of thalassemia depend upon the severity of the disease. People who are only carriers may not have any significant symptoms. Babies born with defective genes inherited from both the parents may show symptoms at birth and others may develop symptoms in the first two years of life. The symptoms are those of anemia, i.e., deficiency of red blood cells. These include weakness, tiredness, breathlessness, and irritability.

Thalassemia in children may result in a pale appearance and slow growth. Slowly there may be deformities in facial bones and protrusion of abdomen. Excessive destruction of red blood cells can lead to yellowish discoloration of the skin and darkening of urine.

Complications

Complication of thalassemia disease include iron overload, infection, bone deformities, slow growth, liver problems, enlarged spleen, and heart problems like congestion and rhythm disturbances in the heart.

Coping

Some precautions can help to cope with thalassemia. One should eat a healthy diet rich in calcium and vitamins. Folic acid supplements should be taken regularly to aid formation of new red cells. Any vitamin supplements with iron should be avoided. Excess of iron in diet or in supplements can be harmful. Tea helps to prevent absorption of iron in the gut as it contains tannins that bind iron. Tea is though not a replacement for chelation if one is required. It is important to prevent infections. One should wash hands frequently and avoid exposure to sources of infection like sick people. Family and friends are the best support. There are support groups that help to cope with the disease and make it easy to live with it. These help by providing useful information and easy access for help and treatment.

Anybody with thalassemia who is planning a baby should go for genetic counseling. This will help to determine the risk of passing the defective gene to the offspring. Screening for the genetic defect can be done by analysis of the set of genes in the baby before birth.

Outlook

Thalassemia is a life-long disease and needs regular medical attention. People with thalassemia can lead normal lives with proper precautions and treatment. They can even parent normal children with proper genetic counseling.

The diagnosis is mainly done by doing blood tests.

  • The RBCs are low in number and have a pale appearance. They vary in size and shape. The hemoglobin may be non-uniformly distributed in these calls giving them a ‘bull’s eye appearance’. All these features can be appreciated under a microscope.
  • Further blood tests like hemoglobin electrophoresis and mutational analysis may be done to analyze the hemoglobin, and to detect any defective genes.
  • Iron content in the blood may be measured.
  • Physical examination may reveal a pale appearance and an enlarged spleen which is the site of destruction of defective RBCs. The spleen is situated near the stomach in the abdomen.

If parents suspect they may have a baby with thalassemia, they can have the baby tested before birth. The tests done in unborn babies include sampling and examination of the placenta, the tissue that connects the baby to the womb of the mother. This is done around 11th week of pregnancy and is called chorionic villus sampling. Another test called amniocentesis is done around the 16th week of pregnancy and involves sampling and examination of the fluid that bathes the baby in the womb. Fetal blood sampling is testing of the baby’s blood, usually done after 18 weeks of pregnancy. This is done by inserting a needle through the mother’s abdomen into the baby’s vessels under guidance of an ultrasound technique.

Treatment of thalassemia depends upon the severity of the condition.

  • Treatment mainly rests upon blood transfusions. The mild cases may occasionally need a blood transfusion after a surgical procedure or an infection. The moderate to severe cases need a blood transfusion several times in a year.
  • Folate supplements can be given along with transfusions. These help in keeping red cells healthy.
  • Repeated blood transfusions can cause harmful levels of iron to build up in the body. These need to be removed by a treatment called chelation. This may be done by giving pills of an injection under the skin.
  • Lastly, bone marrow transplant may help the very severe cases but this carries several risks and need a compatible donor.