Cooley's anemia: Description, Causes and Risk Factors:ICD-10: D56.1Alternative Name: Thalassemia major.Blood carries oxygen from your lungs to other parts of your body using a protein calledhemoglobin found in red blood cells. Hemoglobin occurs in several forms. It is composed of heme, the oxygen carrying respiratory pigment that gives blood its red color, and globin chains, designated alpha, beta, gamma and delta. Specific combinations of globin chains determine the form of hemoglobin.The thalassemias have their origin in abnormal production of hemoglobin A, the main form of adult hemoglobin, which normally contains two alpha and two beta globin chains.Beta-thalassemias, the most common type, involve abnormalities in the beta chain synthesis. Beta globin is made by two genes, one on each chromosome #11. Individuals who have abnormal beta globin gene have beta thalassemia major or Cooley's anemia.Cooley's anemia is a genetic (or “inherited”) blood disorder. In order for a child to get Cooley's anemia, both parents must carry the trait for thalassemia. If both parents carry the trait (also known as “thalassemia minor”), there is a 1-in-4 chance with each pregnancy that the child will be born with a severe form of the disease.Cooley's anemia is most common in people of Mediterranean descent, including Greeks and Italians. African Americans and Asians, especially Chinese, are also genetically predisposed to the blood disorder.Symptoms:Symptoms of Cooley's anemia that a parent may notice include fussiness, poor appetite, and increased infections. As the child matures, other symptoms may include delayed growth, bone deformities in the face, and an extended abdomen caused by liver and spleen swelling.Diagnosis:Cooley's anemia is diagnosed using blood tests. A complete blood count (CBC) identifies anemia, while smaller than average red blood cells and other abnormalities that are characteristic of the blood disorder can be viewed under a microscope. An additional test called a hemoglobin electrophoresis helps to further identify the abnormal hemoglobin that is typical of this type of thalassemia.Prenatal screenings and genetic counseling are available to those who are concerned about a family history of the disease. Prenatal diagnosis is determined from CVS (chorionic villus sampling) or amniocentesis.Treatment:Specific treatment for Cooley's anemia will be determined by your physician based on:
Your age, overall health, and medical history.
Extent of the disease.
Your tolerance for specific medications, procedures, or therapies.
Expectations for the course of the disease.
Your opinion or preference.
Treatment options may include:
Regular blood transfusions.
Medications (to decrease amount of iron in the body, called chelation therapy).
Daily doses of folic acid.
Possible surgical removal (e.g., gallbladder, spleen).
No iron supplements.
Bone marrow transplantation
Chronic red blood cell transfusions will begin when your child's hemoglobin is low, or if the child's growth slows, or if the spleen and liver are enlarged. The treatment team will determine when to begin and how often your child will require transfusions.The most common complications of transfusions are fever and allergic reactions. Allergic reactions are due to proteins in the blood plasma, which can be corrected by washing the donated blood. Fever can be corrected by removing white cells from donated blood, which is now standard practice.Another treatment available to some families is Bone Marrow Transplant (BMT). We say “some” families because it is recommended that a full sibling who is “HLA matched” be the donor. The treatment center will recommend that your family be tested for a “match” soon after diagnosis. If there is a “matched sibling,” you and the treatment center staff will review the options and make a decision for transplant or medical treatment. If you choose bone marrow transplant, your family will be referred to a doctor who is responsible for the procedure.NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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