World Thalassemia Day
- 1 World Thalassemia Day
- 2 What Is Thalassemia?
- 3 Thalassemia Types
- 4 Causes Of Thalassemia
- 5 Thalassemia Signs And Symptoms
- 6 Thalassemia Diagnosis
- 7 Thalassemia and Pregnancy
World Thalassemia Day is observed on 8th may every year to create and increase the awareness about Thalassemia among the public from all around the world. The concept creating awareness, how to prevent from Thalassemia and celebrating World Thalassemia Day was established by the World Health Organization.
What Is Thalassemia?
Have you ever heard about Thalassemia? You might be wondering what does this word mean?
But you might have heard about or you must be aware of various blood diseases, right?
Let me explain it in detail to you.
Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It’s due to either a genetic mutation or a deletion of certain key gene fragments.
The two main types of thalassemia are alpha-thalassemia and beta-thalassemia.
People whose hemoglobin does not produce enough alpha protein have alpha thalassemia. It is commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region.
There are four types of alpha thalassemia that range from mild to severe in their effect on the body.
Silent Carrier State. This condition generally causes no health problems because the lack of alpha protein is so small that the hemoglobin functions normally. It is called “silent carrier” because of how difficult it is to detect. The silent carrier state is “diagnosed” by deduction when an apparently normal individual has a child with hemoglobin H disease or alpha thalassemia trait.
Hemoglobin Constant Spring. This is an unusual form of Silent Carrier state that is caused by a mutation of the alpha globin. It is called Constant Spring after the region of Jamaica in which it was discovered. As in silent carrier state, an individual with this condition usually experiences no related health problems.
Alpha Thalassemia Trait or Mild Alpha Thalassemia. In this condition, the lack of alpha protein is somewhat greater. Patients with this condition have smaller red blood cells and a mild anemia, although many patients do not experience symptoms. However, physicians often mistake mild alpha thalassemia for iron deficiency anemia and prescribe iron supplements that have no effect on the anemia.
Hemoglobin H Disease. In this condition, the lack of alpha protein is great enough to cause severe anemia and serious health problems such as an enlarged spleen, bone deformities, and fatigue. It is named for the abnormal hemoglobin H (created by the remaining beta globin) that destroys red blood cells.
Hemoglobin H-Constant Spring. This condition is more severe than hemoglobin H disease. Individuals with this condition tend to have a more severe anemia and suffer more frequently from enlargement of the spleen and viral infections.
Homozygous Constant Spring. This condition is a variation of hemoglobin H-Constant Spring that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to hemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a carrier of alpha thalassemia trait). This condition is generally less severe than hemoglobin H Constant Spring and more similar to hemoglobin H disease.
Hydrops Fetalis or Alpha Thalassemia Major. In this condition, there are no alpha genes in the individual’s DNA, which causes the gamma globins produced by the fetus to form an abnormal hemoglobin called hemoglobin Barts. Most individuals with this condition die before or shortly after birth. In some extremely rare cases where the condition is discovered before birth, in utero blood transfusions have allowed the birth of children with hydrops fetal is who then require lifelong blood transfusions and medical care.
People whose hemoglobin does not produce enough beta protein have beta thalassemia. It is found 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.
Thalassemia Minor or Thalassemia Trait. In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia. As in mild alpha thalassemia, physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of iron-deficiency anemia and incorrectly prescribe iron supplements.
Thalassemia Intermedia. In this condition, the lack of beta protein in the hemoglobin is great enough to cause a moderately severe anemia and significant health problems, including bone deformities and enlargement of the spleen. However, there is a wide range in the clinical severity of this condition, and the borderline between thalassemia intermedia and the most severe form, thalassemia major, can be confusing. The deciding factor seems to be the number of blood transfusions required by the patient. The more dependent the patient is on blood transfusions, the more likely he or she is to be classified as thalassemia major. Generally speaking, patients with thalassemia intermedia need blood transfusions to improve their quality of life, but not in order to survive.
Thalassemia Major or Cooley’s Anemia. This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.
Causes Of Thalassemia
Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.
If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.
According to the Centers for Disease Control (CDC), thalassemia is most common in people from Asia, the Middle East, Africa, and Mediterranean countries such as Greece and Turkey.
Thalassemia Signs And Symptoms
A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn’t make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder.
Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. The lack of alpha globin protein is so minor that the body’s hemoglobin works normally.
People who have alpha or beta thalassemia trait can have mild anemia. However, many people who have these types of thalassemia have no signs or symptoms.
Mild anemia can make you feel tired. Mild anemia caused by alpha thalassemia trait might be mistaken for iron-deficiency anemia.
Mild to Moderate Anemia and Other Signs and Symptoms
People who have beta thalassemia intermedia have mild to moderate anemia. They also may have other health problems, such as:
- Slowed growth and delayed puberty. Anemia can slow down a child’s growth and development.
- Bone problems. Thalassemia may cause bone marrow to expand. Bone marrow is the spongy substance inside bones that makes blood cells. When bone marrow expands, the bones become wider than normal. They may become brittle and break easily.
- An enlarged spleen. The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must be removed.
Severe Anemia and Other Signs and Symptoms
People who have hemoglobin H disease or beta thalassemia major (also called Cooley’s anemia) have severe thalassemia. Signs and symptoms usually occur within the first 2 years of life. They may include severe anemia and other health problems, such as:
- A pale and listless appearance
- Poor appetite
- Dark urine (a sign that red blood cells are breaking down)
- Slowed growth and delayed puberty
- Jaundice (a yellowish color of the skin or whites of the eyes)
- An enlarged spleen, liver, or heart
- Bone problems (especially with bones in the face)
Most children with moderate to severe thalassemia show signs and symptoms within their first two years of life. If your doctor suspects your child has thalassemia, he or she may confirm a diagnosis using blood tests.
If your child has thalassemia, blood tests may reveal:
- A low level of red blood cells
- Smaller than expected red blood cells
- Pale red blood cells
- Red blood cells that are varied in size and shape
- Red blood cells with uneven hemoglobin distribution, which gives the cells a bulls-eye appearance under the microscope
- Blood tests may also be used to:
- Measure the amount of iron in your child’s blood
- Evaluate his or her hemoglobin
- Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes
Thalassemia and Pregnancy
- Testing can be done before a baby is born to find out if he or she has thalassemia and determine how severe it may be. Tests used to diagnose thalassemia in fetuses include:
- Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
- Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.
Assisted Reproductive Technology
A form of assisted reproductive technology that combines preimplantation genetic diagnosis with in vitro fertilization may help parents who have thalassemia or who are carriers of a defective hemoglobin gene give birth to healthy babies. The procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are tested for the defective genes, and only those without genetic defects are implanted into the uterus.