What is Cooley's anemia?

Cooley's anemia, also known as beta thalassemia major, is a rare condition that requires regular blood transfusions and extensive medical care. The condition mainly affects people of Mediterranean countries and Asia. However, in 1993, a survey showed that 518 patients in the United States with Cooley's anemia. Most of these patients had the severe form of the disease.
What causes it?

Cooley's anemia occurs when there are variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to other parts of the body. People with Cooley's anemia make less hemoglobin and fewer circulating red blood cells than normal, leading to a moderate or severe anemia. The condition is always inherited (passed from parents to children), which means that people with Cooley's anemia variant genes from both parents received.
Understand Hemoglobin

Hemoglobin is made of two kinds of protein chains named alpha-globin chains and beta-globin chains. Alpha thalassemia occurs when there is a problem in the alpha-globin chain. Beta thalassemia occurs when there is a problem in the beta globin chain.
There is a moderate and severe forms of alpha thalassemia and beta thalassemia. 
Severe beta thalassemia is often called Cooley's anemia.
Two genes involved in making the beta globin part of hemoglobin, one from each parent. 
Beta thalassemia occurs when one or both of the two gene variant. For example:
If one does not affected, a person as a carrier and a mild anemia. 
This condition is called beta thalassemia trait or beta thalassemia minor.
If both genes are affected, a person with moderate anemia (beta thalassemia intermedia or mild Cooley's anemia) or severe anemia (beta thalassemia major or Cooley's anemia).

General symptoms of Cooley's anemia

Severe symptoms of Cooley's anemia typically appears during the first two years of life. Symptoms include:
Fatigue and weakness
Pale skin or jaundice (yellowing of the skin)
Protruding abdomen with an enlarged spleen and liver
Dark urine
The abnormal facial bones and poor growth
A poor appetite.
Adolescents with Cooley's anemia may experience delayed puberty. 
It is important to treatment for Cooley's anemia to receive for heart failure and infection are the leading causes of deaths among untreated children with Cooley's anemia.
A diagnosis

Cooley's anemia is diagnosed by blood tests including a complete blood count (CBC) and special hemoglobin studies.
A CBC provides information about the amount of hemoglobin in the blood and the different types of blood cells present. 
People with Cooley's anemia less hemoglobin than normal and fewer red blood cells than normal in their blood.
Hemoglobin studies measure the types of hemoglobin in a blood sample.
(Click thalassemia diagnosis for more information about how the condition is diagnosed.)
Current treatment of Cooley's anemia

The outlook for children with Cooley's anemia due to blood transfusions and antibiotics improved. Frequent transfusions keep hemoglobin levels near normal and prevent many of the complications of Cooley's anemia. But repeated blood transfusions lead to iron overload - a build up of iron in the body - the heart, liver and other organs in the body can be damaged. Drugs known as iron chelators to help rid the body of excess iron, preventing or delaying problems associated with iron overload.
Thalassemia research new treatment for Cooley's anemia, including ways to cure the disease by stem cell gene therapy and study.

Soft Versus serious forms of Cooley's anemia

People with thalassemia intermedia, also known as Cooley's anemia lights may need blood transfusions Social when they experience stress due to an infection.Thalassemia intermedia thalassemia major is when the disease worsens and the patient need blood transfusions regularly.
What is the prognosis?

For a person living with Cooley's anemia will depend on forecasts:
How bad the situation is
How soon treatment begins
How successful the treatment.
People with Cooley's anemia, which is capable of therapy to continue to live successfully in their 30s or 40s.
Is there a cure for Cooley's anemia?

Cooley's anemia can be cured by bone marrow transplantation. This treatment is only possible for a small minority of patients a suitable donor. The transplant is still risky and can cause death.

Cooley's anemia and gene therapy

Thalassemia researchers are developing a gene therapy may develop a cure for Cooley's anemia presented. They are currently looking for two gene therapy treatments, which include:
Beta-globin genes and stem cells
Drugs and fetal hemoglobin.

Beta-globin Gene and stem cells

This treatment option, once fully developed, would involve inserting a normal beta-globin genes (genes that are abnormal in this disease) in the patient's stem cells, the immature bone marrow cells, the progenitors of all other cells in the blood.

Drugs and fetal hemoglobin

Scientists are also developing a treatment that uses drugs or other methods to the patient's genes that produce fetal hemoglobin, which is the form of hemoglobin in fetuses and newborns to activate.
Scientists hope that the production of fetal hemoglobin increase will compensate for the patient's deficiency of adult hemoglobin.