What is thalassemia and its types?

thalassemia.

Thalassemia is an inherited disease that is passed on to children due to a genetic defect in the parents.  This disease causes less blood in the patient's body.

Genetically, there are two major types of thalassemia called alpha thalassemia and beta-thalassemia.  Normal human blood hemoglobin has two alpha and two beta chains.  The two genes responsible for making the app beta-thalassemia are on chromosome 16, while the single gene responsible for making the beta chain is on the HBB chromosome 11. 

Patients with alpha thalassemia have a reduced hemoglobin alpha chain, while patients with beta-thalassemia have a reduced beta chain of hemoglobin.  This is how anemia occurs.

 There are three types of thalassemia depending on the severity of the disease.  The most severe type is called minor and the least severe type is called thalassemia minor.  The moderate type of thalassemia is called intermedia.

 One type of thalassemia can never be converted into another type of thalassemia, that is, alpha thalassemia can never be converted to beta-thalassemia, and beta can never be converted to alpha.  Similarly, a thalassemia minor can never be a thalassemia major and a major can never be a minor.  Similarly, the severity of their disease cannot be increased or decreased.

types of thalassemia.

 Thalassemia minor.

 Thalassemia minor does not cause any discomfort, anxiety, or complaint to the patient nor does it have any significant effect on his / her life.  Such people are called carriers.  In the absence of symptoms and complaints, such people can only be diagnosed by laboratory tests.  Such people lead normal lives but they can pass on thalassemia to their children.  Most people with thalassemia minor are completely unaware of their genetic defects and are physically, mentally, and normal, just as old as normal humans.

 Women with thalassemia minor may become anemic when they become pregnant.

Thalassemia major.

 A person can have thalassemia major only if both parents have some form of thalassemia.

 Patients with thalassemia major have so little blood that they need to have a blood bottle every two to four weeks.  Such babies become anemic only a few months after birth and need a blood bank for the rest of their lives.  These children with weak and sick faces are left behind in both sports and education and lose their self-confidence due to not getting the right place in society.  Repeated blood transfusions and hospitalizations make parents financially exhausted, leading to the death of their children due to inadequate treatment.

 Despite the best treatment in developed countries, these patients can live only 30 to 40 years.  In Pakistan, such patients are about ten years old.  If such adult patients marry a normal person, then all their children must have thalassemia minor.

Inherited disease repair.

 If the parents do not have any type of thalassemia, then all children are normal.

 If one of the parents suffers from a thalassemia minor, 50% of their children will be normal while the other 50% will have a thalassemia minor.  That is, all children in such a couple may have thalassemia minor or a few children or none at all.

 If both parents have a thalassemia minor, 25% of children will have a normal, 50% will have a thalassemia minor and 25% will have a thalassemia major.

 If one of the parents has a thalassemia major, all of their children will have a thalassemia minor.

 If one of the parents suffers from thalassemia major and the other suffers from thalassemia minor, 50% of their children will have thalassemia minor and the remaining 50% will have thalassemia major.

 If both parents have a thalassemia major, then all the children will also have a thalassemia major.

Precautions.

 People with thalassemia minor or major should not marry each other.  Members of families with the disease should not marry into their own families.

 If such people are married, they must consult an expert before having children.

 If such people are married and preg thalassemia baby is tested for thalassemia in the tenth week of pregnancy.

Diagnosis.

 A blood test called hemoglobin electrophoresis can diagnose the disease.  This test is done once in a lifetime to diagnose thalassemia and after the age of six months.

 Normal people over the age of six months have three types of hemoglobin.  Hemoglobin A is the highest at 96%.  Hemoglobin A2 is only 3% while hemoglobin F is only 1%.  Unlike hemoglobin A, hemoglobin A2 and hemoglobin F do not have a beta chain.  Hemoglobin A2 consists of two alpha and two delta chains, while hemoglobin F consists of two alpha and two gamma chains, denot2γ2.  Before birth, the baby's blood contains up to 95% hemoglobin F, but by the age of 6 months, the amount is reduced to 1% and is replaced by hemoglobin A.  (A for adult and F for fetal.) Due to the presence of hemoglobin F, the baby does not show symptoms of thalassemia major in the first month of life.

 Hemoglobin A2 levels in people with thalassemia minor increase to 3.5-7%.

 In people with thalassemia minor, the RBCs are smaller in size.  This condition is called microcytosis.

 Children with thalassemia major have mia, people with thalassemia minor should continue to take one milligram of folic acid tablets daily to prevent further anemia.  It is especially important during pregnancy in women.

 People with beta-thalassemia major need a blood transfusion every two to four weeks.  A bottle of blood contains about 250 milligrams of iron, which the human body cannot eliminate in four weeks.  Repeated blood transfusions increase the amount of iron in the body to a harmful level and thus lead to hemosiderosis which weakens the heart and liver.  Therefore, patients who have repeated blood transfusions have to use iron-chelating drugs that remove excess iron from the body.  One such drug is desferrioxamine, which is injected into a drip.  It costs about Rs 5,000 per month.  It is applied five days a week and each drip lasts eight to ten hours.

 There are also diet pills available to reduce iron from the body, but they are very expensive, such as deferasirox (Exjade) and (Ferriprox (deferiprone).

 If the spleen is too large, it is surgically removed.

 Thalassemia major can also be treated with a bone marrow transplant for Rs. 15 to 20 lakhs.

 Children with alpha thalassemia major die at an early age.

• Note: This article is for general information only. Readers should also consult their physician in this regard.