What is Thalassemia?
Thalassemia is inherited blood disorders. When both parents are thalassemia carriers (trait) their child may become diseased. A person born with thalassemia disease suffers from chronic anemia. Without any treatment they usually die by the age of 5 years.
Thalassemia causes the body to make fewer healthy red blood cells and less haemoglobin than normal. Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn't produce enough of either of these two proteins, the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life. beta thalassemia is more common in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.
There are three types of beta thalassemia that also range from mild to severe in their effect on the body.
1. Thalassemia Minor or Thalassemia Trait.
2. Thalassemia Intermedia.
3. Thalassemia Major or Cooley's Anemia.
Complications
Bone deformities
· Bone marrow expand, which causes bones to widen.
· Abnormal bone structure, especially in face and skull.
· Thin and brittle bones, increasing the chance of broken bones, particularly in spine. Spine factures can result in compression of your spinal cord.
Enlarged spleen (splenomegaly)
· The spleen helps our body fight infection and filter unwanted material, such as old or damaged blood cells.
· Thalassemia often destroys a large number of red blood cells, making spleen work harder than normal, causing it to enlarge.
· Splenomegaly can make anemia worse,
· It Reduces the life of transfused red blood cells.
· If spleen grows too big, it may need to be removed.
Slowed growth rates
· Can cause a child's growth to slow.
· Children with severe thalassemia rarely reach a normal adult height.
· Puberty also may be delayed in these children.
Heart problems
· Congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.
How Are Thalassemia Treated?
Treatments for thalassemia depend on the type and severity of the complaint. Doctors use three standard treatments for moderate and severe forms of thalassemia. Other treatments have been developed or are being tested, but they're used much less often.
Common Treatments
Blood Transfusions
Red blood cells live only for about 120 days for normal people; Thalassemia patients need repeated transfusion to maintain a supply of red blood cells as their cycle break before normal time. Transfusions of red blood cells (often every 2 to 4 weeks) are the main treatment for people who have thalassemia
Blood transfusions allows patient to feel better, enjoy normal activities and boost up the energy.
This treatment is lifesaving, but it's expensive and carries a risk of transmitting infections and viruses (for example, hepatitis, HIV positive).
Ø Red blood cell transfusions are the most common treatment for all major forms of thalassemia.
Ø major form of thalassemia receive red blood cell transfusions every two to four weeks
Ø This expose patients to risk of Blood Transmitted deadly diseases like Hepatitis B, Hepatitis C, HIV Positive and other blood transmitted diseases
Ø This is expensive, each transfusion costs 700 Taka to 1000 Taka
Ø This is painful for the patients as they need to be needled for several hours to complete this
Iron Chelation Therapy
Blood transfusion is one of the lifesaving treatments but it has few drawbacks also. Blood transfusion helps to balance the hemoglobin deficiency but it also heighten the level of iron in the blood cells which is called iron overload. Overburdening of iron can damage the liver, heart, and other parts of the body.
Iron chelation therapy is used to reduce the excess iron from the body. Two medicines are used for iron chelation therapy.
o Deferoxamine is a liquid medicine that is given slowly by using a portable pump and needle under the skin. This therapy takes time (10/12 hours) and mild painful. Having side effects like problems with vision, dizziness and hearing problem.
o Deferasirox is a pill which is taken daily. Side effects include headache, nausea, vomiting, diarrhoea, joint pain, and fatigue. (Monty will add names)
Other Treatments
There are some other treatments which are used much less often as some of those are very expensive and risky.
Stem Cell Transplantation
Stem Cells, present in the bone marrow, give rise to red blood cells that produce Hemoglobin. In Thalassemia, it's the defect in the stem cells that leads to deformed red blood cells that produce the abnormal hemoglobin and transfusion - dependent anemia. Stem Cell transplantation provides a thalassemia patient with healthy stem cells that will produce normal blood cells.
Stem Cells can be transplanted into a patient's body through different methods, such as :
Bone Marrow Transplantation (BMT)
In BMT, chemotherapy is used to kill the patient's stem cells in the bone marrow. They are then replaced with healthy stem cells from a compatible donor. Bone marrow transplants are generally most successful when the donor and host are genetically compatible and when the patient is younger and less transfused.
Cord Blood Transplantation
Instead of harvesting stem cells from a donor’s bone marrow or blood, stem cells are taken from the "cord blood" found in the umbilical cord/placenta of a newborn sibling. Unlike regular bone marrow transplantation, the stem cells taken from the cord blood do not have to be a perfect genetic match. There appears to be a lower instance of rejection in cord blood transplantation.
Gene Therapy
The objective of GENE therapy is to insert a normal beta - globin gene into the patients stem cells, thus allowing increased production of beta globin and healthy red blood cells
Hydroxyurea
Hemoglobin is composed of two protein chain-alpha globin chain and beta globin chains. Patients with beta-thalassemia do not make beta globin, they often require frequent red blood cell transfusions.
Some drugs, including hydroxyurea, can stimulate production of a third type of protein chain called gamma chains. In the womb, the foetus makes this type of protein instead of beta globin. It is not until after birth, when the foetus no longer produces gamma globin that the beta globin deficiency becomes apparent.
Hydroxyurea has been shown to induce production of fetal hemoglobin. Fetal hemoglobin has a pair of gamma-globin molecules in place of the typical beta-globins of adult hemoglobin. Higher-than-normal levels of fetal hemoglobin can ameliorate some of the symptoms of thalassemia. Effects in patients with -thalassemia major are controversial.
Thalassemia is inherited blood disorders. When both parents are thalassemia carriers (trait) their child may become diseased. A person born with thalassemia disease suffers from chronic anemia. Without any treatment they usually die by the age of 5 years.
Thalassemia causes the body to make fewer healthy red blood cells and less haemoglobin than normal. Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn't produce enough of either of these two proteins, the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life. beta thalassemia is more common in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.
There are three types of beta thalassemia that also range from mild to severe in their effect on the body.
1. Thalassemia Minor or Thalassemia Trait.
2. Thalassemia Intermedia.
3. Thalassemia Major or Cooley's Anemia.
Complications
Bone deformities
· Bone marrow expand, which causes bones to widen.
· Abnormal bone structure, especially in face and skull.
· Thin and brittle bones, increasing the chance of broken bones, particularly in spine. Spine factures can result in compression of your spinal cord.
Enlarged spleen (splenomegaly)
· The spleen helps our body fight infection and filter unwanted material, such as old or damaged blood cells.
· Thalassemia often destroys a large number of red blood cells, making spleen work harder than normal, causing it to enlarge.
· Splenomegaly can make anemia worse,
· It Reduces the life of transfused red blood cells.
· If spleen grows too big, it may need to be removed.
Slowed growth rates
· Can cause a child's growth to slow.
· Children with severe thalassemia rarely reach a normal adult height.
· Puberty also may be delayed in these children.
Heart problems
· Congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.
How Are Thalassemia Treated?
Treatments for thalassemia depend on the type and severity of the complaint. Doctors use three standard treatments for moderate and severe forms of thalassemia. Other treatments have been developed or are being tested, but they're used much less often.
Common Treatments
Blood Transfusions
Red blood cells live only for about 120 days for normal people; Thalassemia patients need repeated transfusion to maintain a supply of red blood cells as their cycle break before normal time. Transfusions of red blood cells (often every 2 to 4 weeks) are the main treatment for people who have thalassemia
Blood transfusions allows patient to feel better, enjoy normal activities and boost up the energy.
This treatment is lifesaving, but it's expensive and carries a risk of transmitting infections and viruses (for example, hepatitis, HIV positive).
Ø Red blood cell transfusions are the most common treatment for all major forms of thalassemia.
Ø major form of thalassemia receive red blood cell transfusions every two to four weeks
Ø This expose patients to risk of Blood Transmitted deadly diseases like Hepatitis B, Hepatitis C, HIV Positive and other blood transmitted diseases
Ø This is expensive, each transfusion costs 700 Taka to 1000 Taka
Ø This is painful for the patients as they need to be needled for several hours to complete this
Iron Chelation Therapy
Blood transfusion is one of the lifesaving treatments but it has few drawbacks also. Blood transfusion helps to balance the hemoglobin deficiency but it also heighten the level of iron in the blood cells which is called iron overload. Overburdening of iron can damage the liver, heart, and other parts of the body.
Iron chelation therapy is used to reduce the excess iron from the body. Two medicines are used for iron chelation therapy.
o Deferoxamine is a liquid medicine that is given slowly by using a portable pump and needle under the skin. This therapy takes time (10/12 hours) and mild painful. Having side effects like problems with vision, dizziness and hearing problem.
o Deferasirox is a pill which is taken daily. Side effects include headache, nausea, vomiting, diarrhoea, joint pain, and fatigue. (Monty will add names)
- Folic Acid Supplements
Other Treatments
There are some other treatments which are used much less often as some of those are very expensive and risky.
Stem Cell Transplantation
Stem Cells, present in the bone marrow, give rise to red blood cells that produce Hemoglobin. In Thalassemia, it's the defect in the stem cells that leads to deformed red blood cells that produce the abnormal hemoglobin and transfusion - dependent anemia. Stem Cell transplantation provides a thalassemia patient with healthy stem cells that will produce normal blood cells.
Stem Cells can be transplanted into a patient's body through different methods, such as :
Bone Marrow Transplantation (BMT)
In BMT, chemotherapy is used to kill the patient's stem cells in the bone marrow. They are then replaced with healthy stem cells from a compatible donor. Bone marrow transplants are generally most successful when the donor and host are genetically compatible and when the patient is younger and less transfused.
Cord Blood Transplantation
Instead of harvesting stem cells from a donor’s bone marrow or blood, stem cells are taken from the "cord blood" found in the umbilical cord/placenta of a newborn sibling. Unlike regular bone marrow transplantation, the stem cells taken from the cord blood do not have to be a perfect genetic match. There appears to be a lower instance of rejection in cord blood transplantation.
Gene Therapy
The objective of GENE therapy is to insert a normal beta - globin gene into the patients stem cells, thus allowing increased production of beta globin and healthy red blood cells
Hydroxyurea
Hemoglobin is composed of two protein chain-alpha globin chain and beta globin chains. Patients with beta-thalassemia do not make beta globin, they often require frequent red blood cell transfusions.
Some drugs, including hydroxyurea, can stimulate production of a third type of protein chain called gamma chains. In the womb, the foetus makes this type of protein instead of beta globin. It is not until after birth, when the foetus no longer produces gamma globin that the beta globin deficiency becomes apparent.
Hydroxyurea has been shown to induce production of fetal hemoglobin. Fetal hemoglobin has a pair of gamma-globin molecules in place of the typical beta-globins of adult hemoglobin. Higher-than-normal levels of fetal hemoglobin can ameliorate some of the symptoms of thalassemia. Effects in patients with -thalassemia major are controversial.