Beta Thalassemia In Children – Causes, Symptoms & Treatment

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Has your little one been diagnosed with beta thalassemia? Does the prospect of a bone marrow transplant scare you, and are you looking for more information on it? If you nodded along gravely, consider reading our post below. Here, we look at beta thalassemia in children, how it occurs, its symptoms, and treatment.

What Is Beta Thalassemia?

Thalassemia, in general, refers to a genetic disorder where the body does not produce enough hemoglobin- a protein that helps the red blood cells carry oxygen to other parts of the body. There can be many defective types of hemoglobin and hence different types of thalassemias.

  • A typical molecule contains four globin chains- two alpha globins and two non alpha globins. 90% of adults carry type A1 hemoglobin with two alpha globins and two beta globin chains.
  • Some people have two alpha and two delta globin chains. Infants are born with two alpha and two gamma globin chains.
  • When the body fails to produce any one type of globin, it results in hemoglobin deficiency leading to anemia.
  • Beta thalassemia occurs when the body fails to produce beta- globin chains.
  • Beta thalassemia is the most common type of thalassemia in the United States classically found in people of Italian or Greek descent.
  • It is also called thalassemia minor (thalassemia trait) in its mild form and Cooley’s anemia (or thalassemia major) when severe.
  • People with thalassemia minor have mild anemia and do not require treatment, but patients with thalassemia major may need blood transfusion or bone marrow transplant (BMT)

1. Thalassemia Minor:

Thalassemia minor is caused by absence or abnormality in one of the two beta globin genes. Although this is a non-life threatening condition and does not require treatment, diagnosis of thalassemia minor is important. Children born to two thalassemia minor parents are likely to inherit the defective gene from both parents resulting in higher chances of thalassemia major. Also, people with thalassemia minor are likely to be misdiagnosed for iron-deficiency related anemia, although they have normal blood iron levels. Such patients may be prescribed iron treatment with harmful consequences. Mutation in the beta globin chain is common among those in the Mediterranean region-people whose ancestors are Italians or Greeks can voluntarily opt to be screened for thalassemia. This is done by checking a person’s MCV or cell volume on a standard blood count. The screening is simple and inexpensive. Thalassemia screening is also a part of the prenatal diagnosis.

2. Thalassemia Major:

Thalassemia major occurs when there’s a defect in both the beta globin chains or when they are completely absent. This is a severe form of thalassemia and a cause for worry. Infants with thalassemia major appear healthy and normal until about two years after birth. The fetal hemoglobin (with two alpha globin and two gamma globin chains) is the dominant hemoglobin that protects the child from the effects of thalassemia major. The child may, however, suffer from severe anemia a few months after birth. The bone marrow of these patients does not produce sufficient hemoglobin. Hence, cavities within the marrow enlarge and cause deformities in the facial bones. Another problem that affects thalassemia patients is that their spleen enlarges because of the continual stress to remove abnormal blood cells from the body.

Causes Of Beta Thalassemia:

Thalassemia is caused by mutations in the Human beta-globin (HBB) gene that prevent the body from producing beta globin. A complete absence of beta globin is called beta-zero (B0) thalassemia. Some mutations allow beta globin to be produced, but in reduced amounts- this condition is called beta-plus (B+). Parents of patients with thalassemia minor carry one copy each of the mutated gene, but parents of thalassemia major (and thalassemia intermediate) carry both copies of the mutated gene. Sometimes, one copy of the mutated gene is enough to exhibit symptoms of beta thalassemia.

Symptoms Of Beta Thalassemia:

Thalassemia minor is asymptomatic, i.e. patients do not display signs or symptom except for mild anemia. But symptoms for thalassemia major include:

  • Severe anemia during the first year of birth
  • Fatigue
  • Fussy eaters
  • Deformity of the facial bone
  • Jaundice
  • Dark urine
  • A pale appearance

Risks Of Beta Thalassemia:

Without proper treatment for thalassemia major, patients do not have chances of a long and trouble free life. Some of the complications include:

  • Heart failure
  • Problems caused by iron overload- these include hypothyroidism, hypoparathyroidism, liver fibrosis, etc.
  • Prone to infections
  • Growth deficiency
  • Delayed puberty

Treating Beta Thalassemia:

Treatment for beta thalassemia begins with diagnosis. The diagnosis includes a Complete Blood Count (CBC) test to understand red blood cell count, the level of hemoglobin in it, and Mean Corpuscular Volume (MCV). In fact, low MCV is the first indication of thalassemia. A blood smear is another test conducted to analyze if RBCs are normal and mature. DNA analysis can also help study genetic mutations and deletions in the HBB gene.

  • Patients with thalassemia minor do not need treatment. Ideally, the doctor informs patients about the hereditary character of the disease. In such cases, genetic counseling is undertaken to help patients understand the mode of inheriting the disease and the risks of giving birth to children with thalassemia major (in cases of couples with thalassemia trait).
  • Patients with thalassemia major need a regular blood transfusion to maintain their hemoglobin levels at 9-10 g/dl and enjoy a near-normal life.
  • Regular blood transfusion leads to a buildup of iron in the blood causing an iron overload. This leads to several other complications like liver failure and hypothyroidism. Iron chelation therapy helps remove iron from the blood.
  • Folic acid supplements are prescribed in addition to blood transfusion to help the body build red blood cells.
  • Bone marrow transplant is undertaken to replace the body’s defective stem cells with healthy stem cells from another donor. As of now, this is the only effective cure for thalassemia. But stem cells transplants are expensive with patients having to wait until they find a good donor match.
  • Although enhanced treatment options allow thalassemia patients to live a longer and near-normal life, it also exposes them to complications like osteoporosis and heart failure.

Living With Beta Thalassemia:

Anemia and iron overload are the major reasons for mortality among thalassemia patients. Patients should be encouraged to follow the doctor’s treatment plan. Drinking tea and Vitamin C supplements help in iron excretion. Blood transfusion increases a patient’s risk of contracting infections- screening for diseases like hepatitis and HIV should be regularly done. Other checkups include testing for iron buildup and heart functioning, and yearly vision and hearing tests (1).

Does your child suffer from beta thalassemia? What line of treatment did you follow? Tell us here. Leave a comment below.

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