Thalassemia
Beta Thalassemia
Beta thalassemia is an inherited blood disorder characterized by the abnormal production of a blood protein called hemoglobin. This condition is caused by a mutation within the gene that is responsible for the healthy production of hemoglobin. In healthy people, hemoglobin carries oxygen to tissues and cells throughout the body. Patients with beta thalassemia do not have adequate levels of oxygen within the blood, which can cause anemia. There are two main types of beta thalassemia with symptoms that range from mild to severe. Beta-globin is produced by two genes, one gene from each parent. The severity of the condition correlates with the amount of normal beta-globin production.
Beta Thalassemia Minor
The individuals with thalassemia minor have only one copy of the beta thalassemia gene. These individuals are said to be heterozygous for beta thalassemia and will have mild anemia. This situation can vary closely resemble that with mild iron-deficiency anemia. However, people with thalassemia minor have a normal blood iron level. No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.
Beta Thalassemia Major
The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of HBA. The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hense, the name Cooley's anemia in his honor. At birth the baby with thalassemia major seems entirely normal. Anemia begins to develop within the first months after birth. It becomes progressively more and more severe.
Chromosome location
The gene controlling beta chain production is located on the short (p) arm of chromosome 11 at position 15.5. More precisely, The HBB gene is located from base pair 5,203,271 to base pair 5,204,876
Beta thalassemia is an inherited blood disorder characterized by the abnormal production of a blood protein called hemoglobin. This condition is caused by a mutation within the gene that is responsible for the healthy production of hemoglobin. In healthy people, hemoglobin carries oxygen to tissues and cells throughout the body. Patients with beta thalassemia do not have adequate levels of oxygen within the blood, which can cause anemia. There are two main types of beta thalassemia with symptoms that range from mild to severe. Beta-globin is produced by two genes, one gene from each parent. The severity of the condition correlates with the amount of normal beta-globin production.
Beta Thalassemia Minor
The individuals with thalassemia minor have only one copy of the beta thalassemia gene. These individuals are said to be heterozygous for beta thalassemia and will have mild anemia. This situation can vary closely resemble that with mild iron-deficiency anemia. However, people with thalassemia minor have a normal blood iron level. No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.
Beta Thalassemia Major
The child born with thalassemia major has two genes for beta thalassemia and no normal beta chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of HBA. The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hense, the name Cooley's anemia in his honor. At birth the baby with thalassemia major seems entirely normal. Anemia begins to develop within the first months after birth. It becomes progressively more and more severe.
Chromosome location
The gene controlling beta chain production is located on the short (p) arm of chromosome 11 at position 15.5. More precisely, The HBB gene is located from base pair 5,203,271 to base pair 5,204,876
References: Beta Thalassemia. Genetics Home Reference. U.S. National Library of Medicine. July 2009. April 25, 2010. http://ghr.nlm.nih.gov/condition=betathalassemia Beta Thalassemia. Lucile Packard Children 's Hospital. 2010. April 25, 2010. http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/hematology/thalbeta.html About Thalassemia. Cooley 's Anemia Foundation. 2010. April 25, 2010. http://www.thalassemia.org/index.php?option=com_content&view=article&id=19&Itemid=27 Beta Thalassemias. US Department of Health & Human Services. National Institute of Health. 2010. April 25, 2010. http://www.nhlbi.nih.gov/health/dci/Diseases/Thalassemia/Thalassemia_WhatIs.html Mormino, Vincenzo. Thalassemia in Sicily. Best of Sicily Magazine. 2004. April 25, 2010. http://www.bestofsicily.com/mag/art133.htm Thalassemia. Prathama Blood Center. 2010. April 25, 2010. http://www.prathama.org/thalassimias.php Thalassemia. Disease Information. Iron Overload. 2010. April 25, 2010. http://www.ironoverloadme.com/hcp/disease_information/thalaseemia.html When Your Child Has Beta Thalassemia. Mount Nittany Medical Center. 2010. April 25, 2010. http://www.mountnittany.org/wellness-library/healthsheets/documents?ID=11943 Beta Thalassemia. Access DNA. 2010. April 25, 2010. http://www.accessdna.com/condition/Beta-Thalassemia/60