What’s thalassemia? What can cause thalassemia?

MNT Knowledge Center

Thalassemia is a group of inherited blood disorders that affect the body’s ability to produce hemoglobin and red blood cells – patients have a lower-than-normal number of red blood cells in their bodies and too little hemoglobin. In many cases the red blood cells are too small.

Our red bloodstream cells carry hemoglobin. Hemoglobin, a protein, carries the oxygen we inhale through our lung area and transports it towards the relaxation from the body. A soft material inside a lot of our bones – bone marrow – uses iron our body takes from food and makes hemoglobin.

The bone marrow of individuals with Thalassemia doesn’t produce enough healthy hemoglobin or red bloodstream cells, which in turn causes anemia and fatigue, since the is lacking oxygen. In additional severe Thalassemia cases, a person’s organs might be broken, there’s restricted growth, heart failure, liver damage, as well as dying.

Individuals with mild thalassemia might not require any treatment whatsoever. In additional severe types of the condition, the individual may require regular bloodstream transfusions. Doing lots of exercises and eating a healthy diet plan might help a few of the signs and symptoms of thalassemia, especially fatigue.

New recommendations for NTDT – in This summer, 2013, the Thalassaemia Worldwide Federation (TIF) released recommendations targeted to supply doctors with simple methods to enhance the management and recognition of NTDT (non-transfusion- dependent Thalassaemia). “Recommendations for the treating of Non Transfusion Dependent Thalassaemia (NTDT)” (ISBN 978-9963-717-03-3).

Two alpha globin and 2 beta globin protein chains constitute hemoglobin. There’s two kinds of thalassemia:

Alpha Thalassemia

The alpha thalassemia patient’s hemoglobin doesn’t produce enough alpha protein. This kind is generally present in southern China, Southeast Asia, India, the center East, and Africa.

To create alpha globin protein chains we want four genes, two on every chromosome 16. We obtain two from each parent. If a minumum of one of those genes is missing, it creates alpha thalassemia. The seriousness of thalassemia is dependent on the number of genes are faulty.

    • One faulty (mutated) gene – there are either no symptoms at all, or they are very mild. A person who is apparently “healthy” and has a child with symptoms of thalassemia is known as a Silent Carrier. This type is also known as alpha thalassemia minima, or 2 trait.

 

  • Two mutated genes – the patient will have mild anemia. Also known as alpha thalassemia minor, or 1 trait.

 

 

  • Three mutated genes – the patient will have hemoglobin H disease, i.e. chronic anemia. A person with hemoglobin H disease needs regular blood transfusions throughout his/her life.

 

 

  • Four genes are mutated – the patient has alpha thalassemia major, the severest form of this type of thalassemia. Fetuses with four mutated genes cannot produce normal hemoglobin and do not survive. Blood transfusions given to the fetus have a low success rate. This type of thalassemia is also known as hemoglobin Bart hydrops fetalis.

 

Beta Thalassemia

We need two globin genes to make beta globin chains. We get one from each parent. If one or two of these genes are faulty, it produces beta thalassemia.

Severity of beta thalassemia also depends on how many genes are mutated:

  • If one globin gene is mutated – the patient may have Beta thalassemia minor.
  • If both globin genes are mutated – the patient may have either moderate or severe symptoms (Colley’s anemia).

Beta thalassemia is much more common among people of Mediterranean ancestry, hence its other name, Mediterranean anemia. It is also more prevalent in North Africa and West Asia. Sixteen percent of the people in the Maldives, some islands in the Indian Ocean, are carriers.

What are the Signs and Symptoms Of Thalassemia?

Signs And Symptoms Of Beta Thalassemia

The majority of infants with beta thalassemia will not have symptoms until they reach six months, because they start off with a different type of hemoglobin called fetal hemoglobin. After the age of six months “normal” hemoglobin starts replacing the fetal one.

People with thalassemia mainly have anemia-like symptoms.

  • Jaundice
  • Fatigue
  • Pale skin
  • Cold hands and feet
  • Shortness of breath
  • Poor feeding
  • Delayed growth
  • Skeletal deformities – in some cases as the body tries to produce more bone marrow
  • Too much iron – the body will try to absorb more iron to compensate. Iron may also accumulate from blood transfusions. Excessive iron can harm the spleen,heart and liver
  • Greater susceptibility to infections
  • Delayed puberty

Signs And Symptoms Of Alpha Thalassemia

The majority of children with hemoglobin H are generally healthy. Symptoms will range from mild to moderate anemia.

  • Fatigue
  • Drowsiness
  • Chest pain
  • Pale skin
  • Cold hands and feet
  • Headaches
  • Dizziness and feeling faint
  • Shortness of breath

If treated correctly with a good physician, and also the child with Hemoglobin H follows a healthy diet plan and it is physically active, he/she’ll not get ill more other kids. Illnesses may keep going longer and signs and symptoms might be more serious in comparison with other children. Some patients may require bloodstream transfusions when they’re ill.

Patients with Hemoglobin H possess a greater chance of gall stones as well as an enlarged spleen.

Most fetuses with alpha thalassemia major die before birth individuals that have the ability to survive before the finish of being pregnant are often stillborn. An ultrasound scan usually can identify hydrops fetalis the fetus may have excessive accumulation of liquids.

Diagnosing thalassemia

Most children with moderate to severe thalassemia are diagnosed by the end of their second year. People with no symptoms may not realize until they have a child with thalassemia and are then diagnosed as carriers.

If the doctor suspects thalassemia, certain blood tests may be ordered:

    • A complete blood count (CBC) – to measure hemoglobin levels, quantities of red blood cells and their size. Not only do patients with thalassemia have less hemoglobin than normal, their red blood cells may be particularly small.

 

  • A reticulocyte count – this blood test measures how fast red blood cells (reticulocytes) are being made by the bone marrow and released into the blood. Reticulocytes are usually in the bloodstream for approximately two days before they develop into mature red blood cells. Between 1% to 2% of a healthy person’s red blood cells are reticulocytes.

 

 

  • Iron – studies of iron will help the doctor determine whether the anemia is caused by thalassemia or iron deficiency. For people with thalassemia, iron deficiency is not the cause.

 

 

  • Genetic testing – DNA analysis will help either diagnose thalassemia or tell whether a person is carrying faulty hemoglobin genes.

 

Prenatal testing for thalassemia – to find out whether the fetus has thalassemia and how severe it might be. The following tests may be done:

 

  • Chorionic villus sampling – a piece of the placenta is taken out and checked in the laboratory. This is usually done at the end of the first trimester, around the 11th week of pregnancy.

 

 

  • Amniocentesis – a sample of amniotic fluid is taken. This usually occurs during the 16th week of pregnancy. Amniotic fluid is a clear, slightly yellowish liquid that surrounds the fetus.

 

What are the treatment options for thalassemia?

    • Blood transfusions – this is done to replenish hemoglobin and red blood cell levels. Patients with moderate to severe thalassemia will have repeat transfusions every 4 months, while those with more severe disease may require transfusions every two to four weeks. Patients with mild symptoms may require occasional transfusions when they are ill or have an infection.

 

  • Iron chelation – involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. Iron overload is bad for the heart and some other organs. Patients may be prescribed subcutaneous (injected under the skin) deferoxamine or oral (taken by mouth) deferasirox.

 

Folic acid supplements may be prescribed for patients who are administered blood transfusions and chelation.

 

  • Bone marrow transplant – also called a stem cell transplant. Bone marrow is a spongy tissue that exists in the hollow centers of large bones. Bone marrow cells produce red and white blood cells, hemoglobin and platelets.

 

Doctors say that a bone marrow transplant (from a compatible donor) is the most effective treatment. However, there are significant risks.

 

  • Surgery – some patients with bone abnormalities may require surgery.

 

What are the complications of thalassemia?

 

  • The most common complications include:
    • Iron overload – this may be because of the frequent blood transfusions or the disease itself.

 

Iron overload raises the risk of hepatitis (swollen liver), fibrosis (enlarged liver) and cirrhosis (liver becomes progressively damaged by scarring).

The endocrine system includes glands that produce hormones. The pituitary gland is particularly sensitive to iron overload and can become damaged, which may lead to delayed puberty and restricted growth. Later on after puberty the patient may be at a higher risk of developing diabetes, and having either an underactive or overactive thyroid gland.

 

Iron overload raises the risk of arrhythmias (abnormal heart rhythms) and congestive heart failure.

  • Enlarged spleen (splenomegaly) – also known as hypersplenism. The spleen recycles red blood cells. In patients with thalassemia the red blood cells may have an abnormal shape, making it harder for the spleen to recycle them; the red blood cells accumulate in the spleen, making it grow. An enlarged spleen can become overactive – it starts destroying healthy blood cells the patient receives during transfusions. Sometimes the patient may need a splenectomy (surgical removal of the spleen).

 

 

  • Infection – if the patient has had his/her spleen removed, there is a greater risk of infection.

 

 

  • Bone deformities – in some cases the bone marrow expands, which deforms the bone around it. The bones of the skull and face may be affected. As the bone marrow expands, the bone around it becomes brittle, increasing the risk of fracture.

 

What is the life expectancy for someone with thalassemia?

According to the American Academy of Family Physicians, a patient with thalassemia trait has a normal life expectancy. Those with beta thalassemia major, on average live 17 years and generally die before their thirtieth birthday.

The majority of deaths are caused by the heart complications of iron overload.