Disease and Treatment of Thalassemia
Thalassemia or thalassaemia disease is a blood disorder passed down through families (inherited) or genetic problem that involve the decreased and defective production of hemoglobin, a molecule found inside all red blood cells (RBCs) that transports oxygen throughout the body. Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled. The disorder results in excessive destruction of red blood cells, which leads to mild or severe anemia.
Thalassemias disease are originated in the Mediterranean region. In this case, parents pass the genes for the disorder on to their children. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. If you have mild thalassemia, you may don't need treatment. But, if you have a more severe form of thalassemia, you will need regular blood transfusions.
Type of Thalassemia Disease :
There are two main type of thalassemia ; alpha-thalassemia and beta-thalassemia. Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). Alpha thalassemia trait occurs if one or two of the four genes are missing. If more than two genes are missing, moderate to severe anemia occurs. Alpha is prevalent in peoples of Western African, Middle East and South Asian descent, but nowadays found in populations living in Africa and in the Americas.
Beta thalassemia occurs when similar gene defects affect production of the beta globin protein (one or both genes are altered). Beta thalassemia is particularly prevalent among Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans. In Europe, the highest concentrations of the disease are found in Greece, coastal regions in Turkey, in parts of Italy, in particular, Southern Italy and the lower Po valley.
Beta thalassemia major is also called Cooley's anemia. Beta thalassemias are due to mutations in the HBB gene on chromosome 11. The severity of beta thalassemia depends on how much one or both genes are affected. There are many forms of thalassemia disease. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms ; Thalassemia major and Thalassemia minor.
Thalassemia minor occurs if you receive the defective gene from only one parent. So, You must inherit the defective gene from both parents to develop thalassemia major. Thalassemias affect both males and females. Kids who have with different forms of thalassemia disease have different kinds of health problems.
Sign and Symptom of Thalassemia disease :
Many families have thalassemia carriers, but the trait often goes undiagnosed because it produces no or few symptoms. The signs and symptoms of thalassemia disease depend on the type and severity of thalassemia it self. The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).
In the children who were born with thalessemia major (Cooley's anemia) ussually normal at birth, but develop severe anemia during the first year of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
Generally, Signs and symptoms of thalassemia including weakness, fatigue, pale appearance, facial bone deformities, yellow discoloration of skin (jaundice), Shortness of breath, irritability, abdominal swelling, slow growth, and dark urine.
Potential Complication of Thalassemia Disease :
Untreated thalassemia major leads to liver problems and heart disease such as congestive heart failure and abnormal heart rhythms (arrhythmias), and also makes a person more likely to develop infections. The other most common complication in the cases of severe thalassemia disease are ;
- Enlarged spleen (splenomegaly), Thalassemia is often accompanied by the destruction of a large number of red blood cells, it will make the spleen work harder than normal, and finally causing it to enlarge (Splenomegaly). The spleen helps our body fight infection and filter unwanted material, such as old or damaged blood cells. If the spleen grows too big, it may need to be removed.
- Bone deformities, Patient with thalassemia disease may their bone marrow become expand and it causing bones to widen. This condition make an abnormal bone structure, especially in their face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
- Slowed growth rates, Patient with anemia problem can cause a child's growth to slow. Puberty also may be delayed in children with thalassemia.
Exams, Test and Diagnosis of Thalassemia Disease :
A physical examination may reveal a swollen (enlarged) spleen. The doctors will put diagnose of thalassemias disease using blood tests. She/He will order to get and send a blood sample to the laboratory for examination.
- A complete blood count (CBC) reveals anemia.
- Red blood cells will appear small and abnormally shaped when looked at under a microscope.
- A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
- Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
Treatment of Thalassemia Disease :
Treatment for thalassemia disease depends on which type thalassemia and how severe it is. Patients with thalassemia minor usually do not require any specific treatment. Treatments for moderate to severe thalassemia may include;
- Treatment for thalassemia major often involves regular blood transfusions and folate supplements. (Note: if blood transfusions done, they should not take iron supplements). More-severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks.
- Stem cell or bone marrow transplant, Bone marrow transplant may help treat the disease in some patients, especially children.
- Some medicine therapy which can reduce sign and symptom may appear.
Preventing of Thalassemia Disease :
In most cases, thalassemia can't be prevented. But if you now that you have thalassemia or if you carry a thalassemia gene, we suggest you to go to genetic counseling and prenatal screening that may be available in your area. Especially to those with a family history of this condition and who are planning to have children.
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