There are two types of thalassemia namely thalassemia major & thalassemia minor. Thalassemia is also known as Mediterranean anemia, Cooley’s anemia, which is a results of abnormal hemoglobin found in red blood cells of a child.
Thalassemia is an in herited blood disorders in which the body makes an abnormal form of hemoglobin in red blood cells. It is sometimes called Mediterranean anemia, von jaksch anemia or Cooley's anemia.
The two main forms of thalassemia are alpha thalassemia and beta thalassemia. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are the ones affected.
The signs and symptoms you experience depend on the type and severity of thalassemia you have. Mostly the symptoms are caused by the insufficient supply of oxygen to the tissues (anemia). Though a genetic disorder passed on from parents, all patients do not suffer the same degree. Persons with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
Children born with thalassemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.
- Child shows poor growth
- Pale skin due to anemia
- Shortness of breath (dysponea)
- Yellow discoloration of skin (jaundice)
- Bone deformities in the face
- Abdominal swelling due to an enlarged spleen and liver
- Dark urine
Thalassemia is a genetic disorder, is caused by mutations in the DNA of cells that make hemoglobin. The mutations associated with thalassemia are passed from parents to children. The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction.
Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins and if the genes responsible do not produce enough of alpha or beta chains, the red cells cannot carry hemoglobin properly. The result would be anemia which starts in early childhood and lasts all through life.
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. Hemoglobin molecules are made of alpha and beta chains that can be affected by mutations. Where the genes do not produce enough alpha chains, the condition is called ‘alpha’ Thalassemia. Deficient production of beta chains is termed as ‘beta’ Thalassemia. The more mutated genes, the more severe your thalassemia.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
One mutated gene, Alpha Thalassemia is also called “silent carrier” Thalassemia. There are generally no health problems. But, you are a carrier of the disease and can pass it on to your children.
Alpha-thalassemia minor or alpha-thalassemia trait (Two mutated genes), Here the deficiency of alpha protein causes either no symptoms or presents with only mild anemia.
Hemoglobin H disease (Three mutated genes) your signs and symptoms will be moderate to severe, such as severe anemia and enlargement of the liver and spleen. Bone deformities and fatigue are other symptoms that occur along with anemia.
Alpha-thalassemia major or hydrops fetalis (Four mutated genes); It usually causes a fetus to die before delivery or a newborn to die shortly after birth.
Beta Thalassemia can range from mild to severe. There are three types of beta Thalassemia. Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents.
Beta Thalassemia minor or beta Thalassemia trait: A person with this condition has only a genetic trait for Thalassemia and usually doesn't experience any health problem related to Thalassemia.
Beta-thalassemia intermedia: A milder form lies between major and minor forms, also may occur with two mutated genes. Moderately severe anemia, bone deformities, spleen enlargement are health problems in Thalassemia intermedia.
Beta-thalassemia major or Cooley's anemia, your signs and symptoms will be moderate to severe. Babies born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and symptoms within the first two years of life. Severe life-threatening anemia is characteristic of beta thalassemia major. Untreated patients die before the age of twenty. Frequent blood transfusions are required for survival.
Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2 years of life. People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia.
Thalassemia can be diagnosed using a blood test, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells. People who have thalassemia have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.
Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemia have problems with the alpha or beta globin protein chains of hemoglobin.
Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. These studies involve taking a family medical history and doing blood tests on family members.
If your child has thalassemia, blood tests may reveal: A low level of red blood cells, Smaller than expected red blood cells, Red blood cells that are varied in size and shape, Pale red blood cells, Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope. Testing can be done before a baby is born to find out if it has thalassemia and determine how severe it may be. Prenatal testing involves taking a sample of amniotic fluid or tissue from the placenta. Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it might be.
Possible complications of thalassemia include:
Iron overload: Thalassemia People can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system.
- Enlarged spleen (splenomegaly).
- Bone deformities
- Slowed growth rates
- People with thalassemia have an increased risk of infection. Mostly seen after you've had your spleen removed.