Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in your body than normal. Hemoglobin is the substance in your red blood cells that allows them to carry oxygen. The low hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.
If you have mild thalassemia, you may not need treatment. But if you have a more severe form of the disorder, you may need regular blood transfusions. You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly.
Thalassemia signs and symptoms may include:
Pale or yellowish skin
Facial bone deformities
Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms.
When to see a doctor
Make an appointment with your child's doctor for an evaluation if he or she has any signs or symptoms that worry you.
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in your red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.
Thalassemia disrupts the normal production of hemoglobin and healthy red blood cells. This causes anemia. With anemia, your blood doesn't have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.
Types of thalassemia
The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations.
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:
1 mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
2 mutated genes, your thalassemia signs, and symptoms will be mild. This condition may be called alpha-thalassemia trait.
3 mutated genes, your signs, and symptoms will be moderate to severe.
4 mutated genes. This type is rare. Affected fetuses have severe anemia and usually are stillborn. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition may be treated with transfusions and a stem cell transplant, which is also called a bone marrow transplant.
Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:
1 mutated gene, you'll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
2 mutated genes, your signs, and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also may occur with two mutated genes.
Factors that increase your risk of thalassemia include:
Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
Certain ancestry. Thalassemia occurs most often in African-Americans and in people of Mediterranean and Southeast Asian ancestry.
Possible complications of thalassemia include:
Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system. This system includes hormone-producing glands that regulate processes throughout your body.
Infection. People with thalassemia have an increased risk of infection. This is especially true if you've had your spleen removed.
In cases of severe thalassemia, the following complications can occur:
Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
Enlarged spleen (splenomegaly). The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than normal. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, your doctor may suggest surgery to remove it (splenectomy).
Slowed growth rates. Anemia can cause a child's growth to slow. And thalassemia may cause a delay in puberty.
Heart problems. Heart problems — such as congestive heart failure and abnormal heart rhythms (arrhythmias) — may be associated with severe thalassemia.
Anemia happens when there is a decreased number of circulating red blood cells in the body. It is the most common blood disorder in the general population. Symptoms can include headaches, chest pains, and pale skin.
It often results when other diseases interfere with the body's ability to produce healthy red blood cells or abnormally increase red blood cell breakdown or loss.
Fast facts on Bohemian
Here are some key points about anemia:
Anemia affects an estimated 24.8 percent of the world's population.
Pre-school children have the highest risk, with an estimated 47 percent developing anemia, globally.
More than 400 types of Anemia have been identified.
Anemia is not restricted to humans and can affect pets also.
Symptoms for Anemia:
The most common symptom of all types of Anemia is a feeling of fatigue and a lack of energy.
Other common symptoms may include:
Paleness of skin
Fast or irregular heartbeat
Shortness of breath
In mild cases, there may be few or no symptoms.
Some forms of anemia can have specific symptoms:
Aplastic anemia: Fever, frequent infections, and skin rashes
Folic acid deficiency anemia: Irritability, diarrhea, and a smooth tongue
Hemolytic anemia: Jaundice, dark colored urine, fever, and abdominal pains
Sickle cell anemia: painful swelling of the feet and hands, fatigue, and jaundice
What causes Anemia?
The body needs red blood cells to survive. They carry hemoglobin, a complex protein that contains iron molecules. These molecules carry oxygen from the lungs to the rest of the body.
Some diseases and conditions can result in a low level of red blood cells.
There are many types of anemia, and there is no single cause. It can sometimes be difficult to pinpoint the exact cause.
Below is a general overview of the common causes of the three main groups of anemia:
Anemia caused by blood loss:
The most common type of anemia—iron deficiency anemia—often falls into this category. It is caused by a shortage of iron, most often through blood loss. When the body loses blood, it reacts by pulling in water from tissues outside the bloodstream in an attempt to keep the blood vessels filled. This additional water dilutes the blood. As a result, the red blood cells are diluted.
Blood loss can be acute and rapid or chronic. Rapid blood loss can include surgery, childbirth, trauma, or a ruptured blood vessel. Chronic blood loss is more common in cases of anemia. It can result from a stomach ulcer, cancer, or tumor.
Causes of anemia due to blood loss include:
Gastrointestinal conditions, such as ulcers, hemorrhoids, cancer, or gastritis
Use of non-steroidal anti-inflammatory drugs (NSAIDs), such as aspirin and ibuprofen
Anemia caused by decreased or faulty red blood cell production:
Bone marrow is a soft, spongy tissue found in the center of bones. It is essential for the creation of red blood cells. Bone marrow produces stem cells, which develop into red blood cells, white blood cells, and platelets.
A number of diseases can affect bone marrow, including leukemia, where too many abnormal white blood cells are produced. This disrupts normal production of red blood cells.
Other Anemia caused by decreased or faulty red blood cells includes:
Sickle cell Anemia: Red blood cells are misshapen and break down abnormally quickly. The crescent-shaped blood cells can also get stuck in smaller blood vessels, causing pain.
Iron-deficiency Anemia: Too few red blood cells are produced because not enough iron is present in the body. This can be because of a poor diet, menstruation, frequent blood donation, endurance training, certain digestive conditions, such as Crohn's disease, surgical removal of part of the gut, and some foods.
Bone marrow and stem cell problems: Aplastic anemia, for example, occurs when few or no stem cells are present. Thalassemia occurs when red blood cells cannot grow and mature properly.
Vitamin deficiency Anemia: Vitamin B-12 and folate are both essential for the production of red blood cells. If either is deficient, red blood cell production will be too low. Examples include megaloblastic anemia and pernicious anemia.
Anemia caused by the destruction of red blood cells:
Red blood cells typically have a life span of 120 days in the bloodstream, but they can be destroyed or removed beforehand.
One type of anemia that falls into this category is autoimmune hemolytic anemia, where the body's immune system mistakenly identifies its own red blood cells as a foreign substance and attacks them.
Excessive haemolysis (red blood cell breakdown) can occur for many reasons, including:
Certain drugs, for example, some antibiotics
Snake or spider venom
Toxins produced through advanced kidney or liver disease
An autoimmune attack, for instance, because of hemolytic disease
Vascular grafts and prosthetic heart valves
Enlargement of the spleen
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