Thalassemia

Of the many blood diseases that we know, some of which is also a genetic disease which means it can be dropped into the next generation. One is Thalassemia. The disease is caused by the failure to establish one of the four amino acid chains that form hemoglobin, the main ingredient of blood.

Types of Thalassemia

Based on the amino acid chains that fail the formation, divided into thalassemia alpha thalassemia (alpha chain lost) and beta thalassemia (beta chain is lost). Meanwhile, the loss of amino acid chains can be single (thalassemia minor / heterozygous) or double (thalassemia major / homozygous).

Beta-thalassemia (?-thalassemia) is a form of thalassemia due to mutations in the HBB gene on chromosome 11, inherited in an autosomal recessive fashion.

Thalassaemia minor

Thalassaemia is also called thalassemia minor or trait / default are the ones that healthy, but potentially a carrier or carriers of thalassemia. Meanwhile, thalassemia major is a serious blood disease that begins early on children.

Thalassemia major

Patients with thalassemia major are unable to form enough hemoglobin in their blood, so that almost no oxygen can be distributed throughout the body, which is too long will cause tissue asphyxia (lack of O2), edema, congestive heart failure, and death. Therefore, patients with thalassemia major require frequent blood transfusions and medical care for survival.

What Causes Thalassemia?

Thalassemia is a disease that is genetically inherited and recessive.A person has a gene derived from the genes of his parents. If one parent has the defective gene (thalassemia) while the other healthy parents, their children will stay healthy and just may be carriers (have no symptoms of severe thalassemia). Meanwhile, when both parents have the defective gene, their children suffering from thalassemia major potential. This defective gene that can cause failure of the formation of chains of amino acids on hemoglobin.

If someone has a gene defect that causes a failure of the beta chain of amino acids, he suffered only mild to moderate anemia that causes no symptoms. Meanwhile, people who have two defective genes can suffer from severe anemia accompanied by symptoms of thalassemia.

Thalassemia carrier

If only one of the pregnant women who carry thalassemia or just her husband trait, then 50% likelihood of children born will be carriers of thalassemia and 50% chance of a child born to normal. No one will be born suffering from thalassemia. When both parents carriers of thalassemia, there are several possibilities. The first possibility, the child suffered from thalassemia (25%). The second possibility, the child will only be carriers of thalassemia (50%). Last possibility, the child will be born normal (25%).

Who Requires Inspection Thalassemia?

• Family history of thalassemia
• A person with symptoms of Thalassemia
• Couples of childbearing age
• Pregnant women (prenatal diagnosis)
• Results of low hemoglobin levels between 10-12g/dL
• Results of red blood cell size is smaller than normal, although normal levels of Hb

What are symptoms of thalassemia?

Thalassemia symptoms are varies greatly, depending on the type of amino acid chains are lost and the amount of loss (major or minor). Most people develop a mild anemia, especially hemolytic anemia.

In patients with beta-thalassemia major, multiple symptoms that can appear are:

• suffer from anemia due to failure of blood cell formation, enlarged spleen and liver due to a long and severe anemia,
• Potbelly due to enlargement of the spleen and liver,
• Jaundice (jaundice),
• Arising open wound in the skin (ulcers / ulcers),
• The formation of gallstones,
• Fatigue, his face was pale, listless.
• Shortness of breath because the heart works too hard, which will lead to heart failure and lower limb swelling. Heart failure can also be caused due to frequent transfusions. In repeated transfusions, increased iron absorption and iron overload can be collected and settled in the heart muscle, which in turn can lead to heart failure.
• Overactive bone marrow to produce enough blood, can cause thickening and enlargement of bones, especially the head and face.
• The bones become weak and break easily. The next stage of anemia compensation implemented by the liver and spleen which helped to make red blood cells. Consequently, in these two organs also occurs enlargement.

How to diagnose?

Thalassemia is more difficult to diagnose than other hemoglobin diseases. Can we at least know the symptoms of anemia thalassemia major. Therefore, the diagnosis of thalassemia can be done in a way kind of complete blood count and a low MCV (mean corpuscular volume).

Elektroforesa can help, especially for alpha-thalassemia (though not very helpful). Since thalassemia is a hereditary disease, another useful diagnostic is based on the pattern of hereditary and specific hemoglobin checks.

So overall diagnosis of thalassemia disease included:

• Routine hematology
• Peripheral blood picture
• Status iron: ferritin
• Hemoglobin Analysis High Performance Liquid Chromatography (HPLC) – faster & quantitative
• HBH inclusion bodies
• DCIP precipitation test
• Analysis of Hb elektroforesa
• Examination Confirmation: DNA analysis (especially for prenatal diagnosis & research)

How to treat thalassemia?

Unfortunately, until now there is no medicine that can cure patients with thalassemia. Therapy can be used today is to provide blood transfusions and additional folic acid, as well as maintain his Hb above 10g/dl, so that normal activities and can carry out daily activities.

Thalassemia Spiruina as a alternative treatment

However, repeated blood transfusions can lead to accumulation of iron in the organs of the body (heart, liver, brain) and can disrupt the function of these organs. To prevent the accumulation of iron can be used to give su (Desferal) via a pump (syringe drive) for 10 to 15 hours, 5 consecutive days in a week so that iron can be removed from the body tissues. But unfortunately these drugs are still very expensive and not all parents can afford it.

Patients who undergo transfusions should avoid iron supplements and medications that are oxidative (eg sulfonamides) to prevent accumulation of iron is more severe.

In patients with severe thalassemia may need bone marrow transplants. In this case needed a suitable donor (donor usually twins or siblings of patients), and as early as possible since childhood, when children have not got a lot of blood transfusions, because the more frequent transfusions more likely for the occurrence of rejection of donor bone marrow tissue . Unfortunately, in Indonesia this action is still in early stages.

If there is excessive activity of the spleen, can be removal of the spleen. Excessive activity of the spleen can also destroy normal blood cells, resulting in patient Hb rapidly decreased. It is more common in children who received transfusions more than once a month.

How to prevent it?

Because this disease has no cure, so early prevention has become even more important than therapy. Families with a history of thalassemia should receive genetic counseling to reduce the risk of having a child with thalassemia.