Beta Thalassemia (Cooley's Anemia)

Beta Thalassemia (Cooley's Anemia)

What is beta thalassemia?

Thalassemia is an inherited disorder that affects the production of normal hemoglobin (a type of iron-rich protein in red blood cells that carries oxygen to the tissues of the body). Thalassemia includes a number of different forms of anemia, which are classified as either alpha thalassemias or beta thalasemias. The severity and type of anemia depends on the number of genes that are affected.

Beta thalassemia is caused by abnormal or missing genes that affect the beta chain of the hemoglobin molecule. There is one beta chain gene on each #11 chromosome, and a total of two #11 chromosomes per person, one inherited from each parent. How these genes are altered determines the specific type of beta thalassemia in a person:

People with thalassemia minor have a 50/50 chance to pass the gene to their offspring, who would also have thalassemia minor, assuming that the other parent is not affected. Many people are given iron replacement under the mistaken belief that their anemia is the iron-deficient type. Since too much iron can be harmful, it is important to demonstrate conclusively that a patient has iron deficiency before beginning treatment. If there is any question as to whether a patient has thalassemia, it is wise to consult a hematologist before beginning any treatment. Thalassemia major is inherited by an autosomal recessive gene, which means that two copies of the gene are necessary to produce the condition, one inherited from each of two carrier parents who have thalassemia minor.

How is beta thalassemia diagnosed?

Beta thalassemia is most often found in people who are of Mediterranean ancestry (Greek or Italian), African, or Asian origin. Each child of two carrier parents is at 25 percent risk for the disease. The diagnosis is typically made at 6 to 12 years of age.

Carrier status can be determined by the following:

All of these studies can be performed from a single blood sample. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.

Treatment for beta thalassemia major or Cooley's anemia

Specific treatment for beta thalassemia major or Cooley's anemia will be determined by your doctor based on:

Treatment may include:

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