Abnormal Hemoglobin Levels In The Blood – Know Types of Thalassemia And Treatment Options

Abnormal Hemoglobin Levels In The Blood – Know Types of Thalassemia And Treatment Options

It’s really hard to comprehend the role blood plays in our body. Any malfunction in this fluid can cause a range of disorders which arises from abnormalities in the blood or defects in the blood vessels. One such deadly condition the world is grappling with is thalassemia.

Thalassemia

Thalassemia is a hereditary blood disorder that causes the body to make less or abnormal form of hemoglobin. The hemoglobin refers to the protein molecule present in the red blood cells which transfers oxygen across the body. Low levels of hemoglobin may lead to anemia which is a condition in which the body lacks healthy red blood cells.

What causes thalassemia?

Thalassemia is a genetic condition which means you inherit this disorder from one or both of your parents. The disease is caused by genetic mutation or loss of key gene fragments. Hemoglobin molecules are buildup of alpha and beta chains that can be affected by mutations.

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How common is thalassemia?

As per Centers for Disease Control and Prevention (CDC), the disorder is most common in people of Asia, Middle East, Africa and Mediterranean countries such as Turkey and Greece. In India, about 10,000 children are born with this condition every year. Out of these, around 50 percent die before reaching the age of 20 due to poverty or lack of treatment. However, people who have better resources, the survival rate is well above 30 years of age.

According to a report, about 4 million people in India are carriers of thalassemia and there are over 1 lakh people suffering from the condition.

What is the financial burden of thalassemia in India?

It is estimated that current financial management or cost of treating thalassemia in India is in between Rs. 50,000 and Rs. 2 lakh for a child in a year.

Types of thalassemia and their symptoms

There are different types of thalassemia, the severity of symptoms and onset will depend on the form of the disease.

Beta thalassemia

This type of thalassemia occurs due to body’s inability to produce beta globin (a form of hemoglobin). Beta globin is produced with the combination of two genes from each parent. Beta thalassemia is further divided into two categories; thalassemia major also known as Cooley’s anemia and thalassemia intermedia.

The most severe type of beta thalassemia is Thalassemia Major which develops due to missing beta globin. The symptoms start appearing before a child become 2 years old. Beta thalassemia can induce severe anemia in children. It is so severe that it needs regular blood transfusion. Other symptoms include:

  • Frequent infections
  • Pale skin
  • Failure to grow well
  • Poor appetite
  • Jaundice
  • Enlarged organs
  • Fussiness
  • Dark urine
  • Facial deformities (Thalassemicfacies)

On the other hand, the Thalassemia Intermedia is comparatively less severe. This condition occurs due to alteration or mutation in both the beta globin genes. In this type of thalassemia, one doesn’t require blood transfusion.

Alpha thalassemia

This form of thalassemia occurs when the body is unable to make alpha globin. The alpha globin is made up of four genes, two from each parent. Alpha thalassemia has also two severe types; hemoglobin H disease and hydropsfetalis.

  1. Hemoglobin H develops when three alpha globin genes are either missing or mutated. This can lead to bone problems and forehead, cheeks and jaw may overgrow. It can also cause jaundice, malnourishment and severely enlarged spleen (splenomegaly).
  2. Hydropsfetalis on the other hand, is an extremely serious form of thalassemia in which all the four alpha genes are either missing or mutated. This condition occurs before birth and the child may either be stillborn or die shortly after birth.

Thalassemia minor

As the name denotes, this type of thalassemia usually don’t show any symptoms. Some may experience mild anemia. This one too can be divided into two categories; alpha and beta thalassemia minor. In alpha minor thalassemia, two genes are missing while in beta one, only single gene is missing.

Not everyone with thalassemia will experience visible symptoms. Many a time, signs of this disease show up later in childhood or youth.

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Diagnosis of thalassemia

While the blood test is the most common method of diagnosing thalassemia, in many countries, the most severely affected patients are diagnosed under newborn screening.Other milder affected patients can be identified by complete blood count (CBC) test.

  • Depending on the case, the doctor may perform a physical examination to diagnose thalassemia. For instance, a person with enlarged spleen or facial deformity might indicate thalassemia.
  • The doctor usually sends the sample blood to lab for checking any abnormalities. If the red blood cells are abnormally shaped, it could be a sign of thalassemia.
  • A person may also be ordered to undergo hemoglobin electrophoresis. This procedure splits the different molecules present in the red blood cells to identify the abnormal shape of the red blood cells.

Is thalassemia treatable?

The treatment depends on the severity of the case. The doctor may advise one of the following:

  1. Close monitoring – In case of mild anemia which is moderate or well tolerated, the doctor may only want to check you regularly for your complete blood count.
  2. Medications – Oral medication such as deferasirox can help remove excess of iron from the blood. These medicines are known as iron chelators. Other medicines like hydroxyurea help increases the production fetal hemoglobin. The doctor may also recommend you vitamins, folic acid and supplements containing iron.
  3. Blood transfusions – In individuals where anemia is causing severe complications such as enlarged spleen or facial deformity, chronic blood transfusion could be the only option. The person has to regularly (every 3-4 weeks) undergo blood transfusion to make bone marrow capable of producing as much red blood cells as possible.
  4. Bone marrow (stem cell) transplantation – This is considered as curative measure against thalassemia. In this procedure, blood stem cells are transplanted that travels to the bone marrow and promote the growth of new blood cells. Close sibling donors offer the best chances of matching bone marrow.
  5. Surgery – The doctor may also suggest removal of the spleen and gallbladder.

Thalassemia and pregnancy

Thalassemia brings a whole lot of concerns for pregnant moms. A woman suffering from thalassemia may experience fertility issues due to poor development of the reproductive organ. It is extremely important for these women to talk with the doctor and start treating the condition well before they plan for child.

Pregnant women with thalassemia are likely to face following problems:

Since thalassemia is a genetic condition, there isn’t any way to prevent it. What we can do is to treat the condition properly in order to prevent complications. Diet low in fat and iron is generally preferred. Meat and fish are high in iron as well as cereals, bread and juices also contain high iron levels. Talk to your doctor and discuss more on treating the condition effectively.