Thalassemia Ms. Hoge Jane Doe

What is Thalassemia Blood disorder that is inherited, in which the body makes an abnormal form of hemoglobin. - hemoglobin is what the oxygen attaches to which is then taken to the rest of the body.

Abnormal blood cell – affected with thalassemia

Affects on Body Thalassemia results in excessive destruction of red blood cells, which leads to anemia. This results in the following symptoms: FatigueWeakness Shortness of breathPale appearance IrritabilitySlow growth Yellow discoloration of skinAbdominal swelling Facial bone deformitiesDark urine

Causes There is a defect in the gene that controls the proteins Alpha globin and beta globin, which help make hemoglobin for the red blood cells. There are two types:  1) Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).  2) Beta thalassemia occurs when similar gene defects affect production of the beta globin protein

Genetic Mutation Both alpha and beta thalassemia include the following two forms:  Thalassemia major  Thalassemia minor You must inherit the defective gene from both parents to develop thalassemia major. Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms.

Inheritance Thalassemia is a recessive trait  BETA-THALASSEMIA. Most individuals have two normal copies of the beta globin gene, which is located on chromosome 11  ALPHA-THALASSEMIA. Most individuals have four normal copies of the alpha globin gene, two copies on each chromosome 16.

Diagnosis Blood tests are ordered to diagnose thalassemia after birth or parents who know that are carriers of thalassemia can do prenatal testing. Genetic Counseling is an option for those with thalassemia, it is highly required for those trying to reproduce

Treatment Thalassemia can be treated by  Blood transfusions  Bone Marrow Transplant  Stem Cell Transplant

Commonness of Disorder  Alpha thalassemias occur most commonly in persons from southeast Asia, the Middle East, China, and in those of African descent.  Beta thalassemias occur in persons of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans.

Sources erview.html#Symptoms on=symptoms genetics-center/231.html