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Bones are weak, brittle and enlarged due to expansion of the bone marrow.

Revealing the Inherited Disorder
Do you need help and support? Cooley’s AnemiaFoundation.Leading the fight against thalassemia.http:// www.cooleysanemia.org United States Department of Health and Human Services. explorethalassemia.

Prevention of Thalassemia  Pre-natal test to detect can detect the disorder if you and your partners are carriers Consulting a genetic counselor if you are a carrier to determine your risk of passing the disorder to your children

Thalassemias

http:// www.nhlbi.nih.gov/health/health-topics Genetic and Rare Disease Information Center. http:// www.rarediseases.info.nih.gov

Treatments of Thalassemias Thalassemia Support Foundation. Carriers require no treatments. The standard treatments for moderate to severe disorders include:  Blood transfusion of the red blood cells to replace the fragile cells Iron therapy to improve the iron makeup of the red blood cells Bone marrow transplantation will replace the defective stem cells where the blood cells are formed. http:// www.helpthals International Support Group http://hemonc.cho.org/thal/inter_support.

By Deborah Aderin RN, BSN Molloy College.

What areThalassemias? Thalassemias are inherited blood disorder that affects the way body makes hemoglobin.Hemoglobin is the protein in the red blood cells that is responsible for transporting oxygen from your lungs to all over your body. Hemoglobin has two protein components, 2-alpha and 2-beta goblins. How does one getThalassemia? Thalassemias are inherited condition in which the genes are passed from parents to children.Thalassemia occurs when you have less hemoglobin and fewer red blood cells that are defective than normal in your body. The red blood cells are destroyed before maturity causing moderate to severe anemia What is Alpha Thalassemia? Alpha thalassemia occurs in people who do not produce enough alpha globin protein because one or more of the gene is missing or damaged.When one gene is affected, you will not have any symptom, but you will be considered as a carrier. If two genes are affected, you will have mild anemia that will not need any treatment, it is called alpha thalassemia minor. When three genes are affected, you will develop mild to moderate anemia. However, when all the four genes

are missing, it is called alpha thalassemia major. The baby will either die before birth, or soon after birth. This thalassemia is common among people from Africa, India, Southeast Asia, and southern China. What is Beta Thalassemia? Beta thalassemia occurs when there is a defect in the production of beta globin from the beta genes. The two beta globin genes are present, but they fail to produce adequate hemoglobin. If both genes are affected, the result is moderate to severe anemia is known as thalassemia major or Cooley’s anemia. If one gene is affected, you will have mild anemia that does not require any treatment. It is common among people of Italian, Greek, Middle Eastern and Asian. How Are Genes Inherited? The normal hemoglobin is A, inherited from parents, two from the father, and two from the mother. Inheritance of two hemoglobin A genes will have hemoglobin AA. Inheritance of one or more of the thalassemia genes will result to mild to severe thalassemia. How Are Thalassemia Diagnosed? Doctors diagnosed thalassemia through blood tests.

CBC is a complete blood count test that will show the different types of blood cells and their quantity. Hemoglobin Studies will identify the type of hemoglobin in the blood. Family medical history will points to the heredity of thalassemia. Hemoglobin Electrophoresis will show the presence of abnormal form of hemoglobin. Iron Studies will measure the body’s iron storage and usage.

 DNA Analysis, which is the gene
test to find the heredity of the disorder. Symptoms of Thalassemias?   Pallor due to shortage of red blood cells Fatigue and shortness of breath due to low oxygen level from low hemoglobin Frequent infections from the enlarged spleen that is unable to fight the infections Dark urine and discoloration of the skin due to enlarged liver and breakdown of the red blood cells