Thalassemia- It's in the blood

Thalassemias are inherited blood disorders. This is passed on from parents to children through the genes. Thalassemia is also known as Mediterranean anemia and it is characterized by having less hemoglobin and fewer red blood cells in your body than normal. Defects in the genes that make hemoglobin cause thalassemia. If you have a mild form of thalassemia, you may not require any treatment. But, if you have a more severe form, you may need blood transfusions on a regular basis. Although thalassemia causes anemia, don't confuse thalassemia with iron deficiency anemia. People with thalassemia often have more iron in their bodies than they need, so this always needs to be checked before any supplements are given.

thalasemia

Types of Thalassemia:

Alpha-thalassemia: Four genes are involved in making the alpha hemoglobin chain. The more defective genes you have, the more severe your alpha-thalassemia:

One gene. If only one of your alpha hemoglobin genes is defective, you'll have no signs or symptoms of thalassemia.
Two genes. If you have two defective alpha hemoglobin genes, thalassemia signs and symptoms are mild.
Three genes. If three of your alpha hemoglobin genes are defective, your signs and symptoms will be moderate to severe.
Four genes. When all four alpha hemoglobin genes are defective, the condition is called alpha-thalassemia major or hydrops fetalis.

Beta-thalassemia: Two genes are involved in making the beta hemoglobin chain.

One gene. If one of your beta hemoglobin genes is defective, you have mild signs and symptoms. This is a minor condition.
Two genes. If both of your beta hemoglobin genes are defective, your signs and symptoms will be moderate to severe. This condition is called beta-thalassemia major or Cooley's anemia.

Causes: As said previously, thalassemias are inherited disorders. People who get abnormal hemoglobin genes from one parent but normal genes from the other are called carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the abnormal genes on to their children.

Family history: Thalassemia is an inherited disorder, passed from parents to children through defective hemoglobin genes.

Ancestry: Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, southern Asian and African ancestry. Alpha-thalassemia affects mainly people of Southeast Asian, Chinese and Filipino descent.

Symptoms:

Fatigue
Weakness
Shortness of breath
Yellow discoloration of the skin (jaundice)
Bone deformities in the face
Slow growth
Protruding abdomen
Dark urine

In most cases, thalassemia cannot be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have a child.

Complications:

Iron overload.
Infection: Thalassemia increases your risk of developing a blood-borne infection, such as hepatitis
Bone deformities: Thalassemia can make your bone marrow expand, which causes your bones to widen.
Enlarged spleen (splenomegaly): The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia often destroys a large number of red blood cells.
Slowed growth rates: Anemia can cause a child's growth to slow.
Heart problems

Treatment: Treatment for thalassemia depends on which type you have

Blood Transfusions: Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. If you have hemoglobin H disease or beta thalassemia intermedia, you may need blood transfusions on occasion. If you have beta thalassemia major, or Cooley's anemia, you need regular blood transfusions.

Iron Chelation Therapy: Because the hemoglobin in red blood cells is an iron-rich protein, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body. To prevent this damage, iron chelation therapy is needed to remove excess iron from the body. Two medicines are used for iron chelation therapy. Deferoxamine, a liquid medicine and Deferasirox, a pill.

Blood and Marrow Stem Cell Transplant: A blood and marrow stem cell transplant replaces your abnormal or faulty stem cells with healthy ones from another person (a donor). A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people who have the severe form of the disorder are able to find a good match among donors and have the risky procedure.

If you have thalassemia, be sure to:

Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other supplements that contain iron.
Eat a healthy diet. Eating a well-balanced diet that contains plenty of nutritious foods can help you feel better and boost your energy. Your doctor may also recommend you take a folic acid supplement to help your body make new red blood cells.
Avoid infections. Protect yourself from infections with frequent hand washing and by avoiding sick people.

If you develop a fever or other signs and symptoms of an infection, see your doctor for treatment.

(Source: mayoclinic.com, medicinenet.com, nhlbi.nih.gov)