Thalassemia: Types, Diagnosis and Treatment

Thalassemia is an inherited blood disorder that disrupts hemoglobin production which leads to anemia. Its impact can sometimes be life-threatening. This disorder though inherited from parents or family history have classified on the basis of its seriousness. In this write up we will explore its types, Diagnosis, and Treatment Options.

Contents

Symptoms of thalassemia

Symptoms are not visible always. They appear obvious with rising age and according to the types of thalassemia. Some common symptoms of thalassemia are-

  • Fatigue, weakness, chest pain, shortness of breath, leg cramps, rapid heartbeat, headaches
  • Dark urine, yellow or pale skin (jaundice)
  • Bone deformities (In the face particularly), slow growth and development, abdominal swelling, poor feeding, abnormal bleeding

Skeletal deformities may result in excessive production of bone marrow. A serious complication of this disorder that, it can lead to organ failure.

Types of Thalassemia

It all depends on the number of gene mutations a person adopts from his/her parents as well as the part of the hemoglobin molecule is affected by the mutations. More is the mutated gene more serious is the thalassemia. Symptoms and seriousness vary with types and subtypes.

  1. Beta thalassemia
  2. Alpha thalassemia

Hemoglobin is formed by the combination of heme with globin (protein). Globin is made up of four polypeptide chains (an oligomeric protein). Two of these polypeptides are known as alpha (α) and the other two are known as beta (β). Each alpha chain has 141 amino acids and each beta chain has 146 amino acids, which are arranged in a definite sequence.

Beta thalassemia:

Two genes participate to make the beta hemoglobin chain. One is inherited from each of the parents as-

  • 1 mutated gene: A person if have inherited only 1 mutated gene then will have mild symptoms of thalassemia and called thalassemia minor or beta-thalassemia.
  • 2 mutated genes: In this case, symptoms will be moderate to severe. This condition is also called thalassemia major or Cooley anemia. Babies born with this condition do not show any symptoms at birth but they develop within two initial years.

Alpha thalassemia:

Four genes participate to make the alpha hemoglobin chain. Two from each parent are adopted. Its subtypes depend on gene mutated-

  • 1 mutated gene: In this, a person is a carrier for sure and can pass it on to his children but does not show any symptoms.
  • 2 mutated genes: Symptoms will be mild and called alpha-thalassemia trait.
  • 3 mutated genes: Symptoms are moderate to severe.
  • 4 mutated genes: Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. They can also treat with a stem cell transplant, which is also called a bone marrow transplant.

Diagnosis

A person with thalassemia needs to test his blood sample. Initially, when it was not recognized and find some symptoms, the doctor you consult will ask you to go through the blood test and other observations if found serious. A lab technician will check for anemia, abnormal hemoglobin, oddly-shaped red blood cells. They may ask to go through one more test called hemoglobin electrophoresis. A person may need to go through physical examination if it is serious which will help a doctor make the diagnosis (1).

There are more tests one require to go through to make sure and deem its seriousness are-

  • A complete blood count
  • A reticulate count
  • Iron
  • Genetic testing
  • Prenatal testing

Treatment

It again depends on the severity of the disorder. There are few treatment types known for thalassemia cure are-

  1. Blood transfusions: This is the first treatment that arrives in one’s mind when they get to know about thalassemia. In this, they replenish hemoglobin and red blood cell levels. Eight to twelve transfusions a year will need for major thalassemia and up to eight for less severe thalassemia.
  2. Iron chelation: It removes extra iron from the bloodstream. Sometimes blood transfusions can cause iron overload. This can damage the heart and other organs. Patients who receive blood transfusions and chelation may also need folic acid supplements. These help the red blood cells develop.
  3. Bone marrow or stem cell, transplant: Bone marrow cells produce red and white blood cells, hemoglobin, and platelets. A transplant from a compatible donor may be an effective treatment, in severe cases. But it is very expensive.
  4. Surgery: This may be necessary to correct bone abnormalities.
  5. Gene therapy: Scientists are investigating genetic techniques to treat thalassemia. Possibilities include inserting a normal beta-globin gene into the patient’s bone marrow or using drugs to reactivate the genes that produce fetal hemoglobin.

Though there are these treatments are available, not affordable to all. So, prevention is always better than cure.

Thalassemia occurs particularly when there is a deformity in one of the genes participating in hemoglobin production. People who have only a single gene affected do not show any symptoms. It mostly obtains from parents so it called an inherited disorder.

Single gene infected is simply meant only one of the parents is a carrier for thalassemia and is known as thalassemia minor. It probably does not show any symptoms of this type but a person is a carrier of the disease.

If in case, both parents are carriers of thalassemia then you are at greater risk of inheriting the serious form of it. The mutations associated with thalassemia are passed from parents to children.

As we learned thalassemia disrupts normal mutations in the DNA that produces hemoglobin causes anemia. It eventually leaves your body starved for oxygen and you fatigued.

The Prevention

Thalassemia, which is not serious, may not require treatment but serious type of this disorder require treatment like a regular blood transfusion. Complications vary in this disorder and possible few are contracting hepatitis A or B, bone deformities heart problems, diabetes-like severe difficulties.

It requires constant medical care to control this condition effectively. A person with thalassemia need to take precautions as follows-

  • It is always important to be aware of any disorder or any abnormality in health. Thalassemia is an incurable disease, therefore, it needs prevention.
  • If you find any such symptoms or planning for a baby (for gene carriers) keep in touch with your genetic counselor
  • Blood transfusion receiver strictly follow their transfusion and chelation schedule
  • They should attend their regular appointments with their physicist
  • Try to keep your attitude positive
  • Follow a healthy diet
  • Stay tuned for your daily exercises
  • Avoid taking iron-rich food
  • Keep vaccination up to date to prevent illness (More important for those who receive blood transfusion)
  • A continuous education model for medical staff is required
  • The government must motivate gynecologists and pathologies to ensure every pregnant woman goes through the HbA2 test before week 14 of pregnancy

Thalassemia is becoming one of the serious and incurable inherited disorders since around 1 lakh newborns are born with a severe type of thalassemia every year.

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