Other names
choleric anemia thalassemia mediterranean anemia
Thalassemia disease
Thalassemia is a genetic disorder of the blood that is passed from parents to children through genes and occurs when the body does not produce enough of a protein called hemoglobin, which is an important part of red blood cells. When there is not enough hemoglobin, the red blood cells in the body do not function properly. true and lasts for shorter periods of time So there are fewer healthy red blood cells traveling in the bloodstream.
Red blood cells carry oxygen to all cells of the body. Oxygen is the fuel cells use to function. When there are not enough healthy red blood cells, not enough oxygen is also delivered to all other cells of the body, which can cause a person to feel tired. weakness, or shortness of breath.
This is a condition called anemia in which people with thalassemia may have mild or severe anemia, and severe anemia can damage organs and lead to death.
The carrier of thalassemia acquires immunity against malaria, and the odds of surviving malaria rise in areas known to spread malaria For this reason, this disease is prevalent in the tropics and nearby areas.
Thalassemia symptoms
There are several types of thalassemia. The signs and symptoms you experience depend on the type and severity of your condition. Thalassemia signs and symptoms may include:
exhaustion.
weakness.
pale or yellowish skin
Facial bone deformities.
slow growth
flatulence
dark urine
Some children show signs and symptoms of thalassemia at birth, others develop it during the first two years of life, and some people who have one affected hemoglobin gene do not show symptoms of thalassemia.
Thalassemia causes and risk factors
The main causes and risk factors for thalassemia include
1. Causes of Thalassemia
Thalassemia is caused by a defect in the genes that affect hemoglobin production. A child can only be born with thalassemia if they inherit these defective genes from both parents.
For example, if both parents have the defective gene that causes beta thalassemia major, there is a 1 in 4 chance that each child will be born with this condition, as usually the parents of a child with thalassemia are carriers of thalassemia, meaning they have only one of the defective genes.
2. Thalassemia risk factors
Factors that increase the risk of developing thalassemia include
A family history of thalassemia: Thalassemia is transmitted from parents to children through mutated hemoglobin genes.
Ethnicity: Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.
Thalassemia complications
Complications include the following
1. Intermediate complications of thalassemia
Possible complications of moderate to severe thalassemia include
iron overload
People with thalassemia can get too much iron in their bodies either from disease or from frequent blood transfusions, so excessive iron intake can damage the heart, liver, and endocrine system, which includes hormone-producing glands that regulate processes throughout the body. .
infection
People with thalassemia have an increased risk of infection and this is especially true if you have had your spleen removed.
2. Severe complications of thalassemia
In severe thalassemia cases, the following complications can occur
Bone deformities
Thalassemia can cause the bone marrow to expand, causing your bones to widen. This can lead to abnormal bone structure, especially in your face and skull. Bone marrow expansion can also make your bones thin and brittle. This increases the chance of a broken bone.
splenomegaly
The spleen helps your body fight infection and filter out unwanted substances, such as: Old or damaged blood cells Thalassemia often accompanies the destruction of a large number of red blood cells. This causes the spleen to enlarge and work harder than usual.
An enlarged spleen can worsen anemia and can shorten the lifespan of transfused red blood cells, so if your spleen grows too large, your doctor may suggest surgery to remove it.
slowing growth rates
Anemia can slow a child''s growth and delay puberty.
heart problems
Congestive heart failure and arrhythmias can be associated with severe thalassemia.
Thalassemia diagnosis
In most cases, alpha thalassemia is diagnosed through newborn screening, a blood test given when a baby is first born. Babies with thalassemia major may have flatulence, symptoms of anemia, or failure to thrive.
If your doctor suspects alpha thalassemia, they will take a blood sample for testing. Blood tests can detect pale red blood cells, varying in shape and size or smaller than normal. They can also detect a low red blood cell count and cells with an uneven distribution of hemoglobin, making them look like Bull''s eye when viewed through a microscope.
Blood tests can also measure the amount of iron in the blood, evaluate hemoglobin, and test the baby''s DNA for abnormal hemoglobin genes. If both parents are carriers of the alpha thalassemia disorder, doctors can test the fetus before birth. This is done by:
Placenta biopsy: This takes place around 11 weeks of pregnancy and involves removing a small piece of the placenta for testing.
Amniocentesis: This is usually done after about 16 weeks of pregnancy and involves removing a sample of the fluid surrounding the fetus.
Thalassemia treatment
Mild forms of thalassemia do not require treatment, but for moderate to severe thalassemia, treatments may include:
1. Blood transfusions
More severe forms of thalassemia often require frequent blood transfusions, perhaps every few weeks. Over time, the transfusion causes a buildup of iron in the blood that can damage the heart, liver and other organs.
2. Chelation therapy
This is a treatment to remove excess iron from the blood as iron may build up as a result of regular blood transfusions, and some people with thalassemia who do not have regular blood transfusions can also develop iron overload.
To help rid your body of excess iron, you may need to take an oral medication such as deferasirox, deferiprone, or deferoxamine given by needle.
3. Stem cell transplantation
A stem cell transplant, also called a bone marrow transplant, may be an option in some cases. In children with severe thalassemia, it can eliminate the need for lifelong blood transfusions and medications to control iron overload.
This procedure involves receiving infusions of stem cells from a compatible donor, usually a sibling.
Thalassemia prevention
In most cases, you cannot prevent thalassemia. If you have thalassemia, or if you carry the thalassemia gene, you should speak with a genetic counselor for guidance if you wish to have children.
A form of assisted reproductive technology that screens an early-stage fetus for genetic mutations associated with in vitro fertilization, this may help parents with thalassemia or carriers of the defective hemoglobin gene produce healthy babies.
The procedure involves retrieving mature eggs and fertilizing them with sperm in a dish in a laboratory. The embryos are then tested for the defective genes, and only embryos that do not have the genetic defects are implanted into the uterus.
Common types
Hemoglobin is made up of two types of proteins: alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control the production of one of these proteins.
There are two main types of thalassemia
1. Alpha thalassemia
It occurs when a gene or genes related to the alpha globin protein are missing or ed. Alpha thalassemia most often affects people from Southeast Asia, the Middle East, China, and people of African descent.
2. Beta thalassemia
When similar genetic defects affect the production of the beta globin protein, beta thalassemia occurs, and it occurs most often in Chinese, other Asians, and African Americans.
There are many forms of thalassemia, and each type has many different subtypes. Both alpha and beta thalassemia include the following two forms: thalassemia major and thalassemia minor.
In order to have thalassemia major, you must inherit the genetic defect from both parents, and thalassemia minor occurs if you receive the defective gene from only one of the parents. People with this type of disorder are carriers of the disease and often do not show symptoms.
