Thalassemia

Thalassemia

Mediterranean anemia, Cooley's anemia, beta thalassemia, Alpha thalassemia
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Thalassemia, a blood disease transmitted through families (inherited) in the bodymakes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disease results in an excessive destruction of red blood cells, whichleads to anemia.

Causes, incidence and risk factors

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of these proteins.There are two main types of thalassemia:Alpha thalassemia occurs when a gene or genes associated with the alpha globin protein are missing or changed (mutated).Beta thalassemia is when similar gene defects affect production of the beta globin protein.The Alpha thalassemias are most common in persons from Southeast Asia, Middle East, China, and in those of African descent.Beta thalassemias occur in people of Mediterranean origin, and to a lesser extent, Chinese and other Asians, and African Americans.There are many forms of thalassemia. Each type has many different subtypes.Both alpha and beta thalassemia include the following two forms:Thalassemia majorThalassemia minorYou have the defective gene from both parents stand thalassemia major development.Thalassemia minor as you get the defective gene from only one parent. People with this form of the disease are carriers of the disease and usually have no symptoms.Beta thalassemia major is also called Cooley's anemia.Risk factors for thalassemia include:Asian, Chinese, Mediterranean, or African American ethnicityFamily history of disease.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the last stages of pregnancy).Children born with thalessemia major (Cooley's anemia) are normal at birth but develop severe anemia during the first year of life.Other symptoms may include:Bone deformities in the faceFatigueGrowth failureShortness of breathYellow skin (jaundice)Persons with a small form of alpha and beta thalassemia have small red blood cells (identified by looking at their red blood cells under a microscope), but no symptoms

Signs and tests

A physical examination may reveal a swollen (enlarged) spleen.A blood sample is taken and sent to a laboratory for examination.Red Blood Cells small and abnormally shaped will appear when looked at under a microscope.A complete blood count (CBC) shows anemia.A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.A mutation analysis test can help to detect alpha thalassemia that is not with hemoglobin electrophoresis seen.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.If you received blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron in the body to build, which could be harmful.People that significant numbers of blood transfusions received a treatment called chelation therapy, excess iron from the body removed.Bone marrow transplant may help treat the disease in some patients, especially children.

Expectations (Prognosis)

Severe thalassemia early death from heart failure caused, usually between the ages of 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps to improve the outcome.Less severe forms of thalassemia usually do not have a shorter lifespan.Genetic counseling and prenatal screening available to those with a family history of this state who plan to have children

Complications

Untreated, thalassemia major leads to heart failure and liver problems, and make aperson more likely to develop infections.

Blood transfusions can help a couple to control symptoms but can lead to too muchiron as the heart, liver, and endocrine system damage.