Beta thalassemia:-
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.
Contents:
1) Introduction
2) Symptoms
3) History
4) Causes
5) Diagnosis
6) Treatment
7) Epidemiology
1) Introduction :
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated
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All people with thalassemia are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gallstones.[6] These complications are mostly found in thalassemia major and intermediate patients. Individuals with beta thalassemia major usually present within the first two years of life with severe anemia, poor growth and skeletal abnormalities during infancy. Untreated thalassemia major eventually leads to death, usually by heart failure; therefore, birth screening is very …show more content…
The technology is based on delivery of a lentiviral vector carrying both the human β-globin gene and an ankyrin insulator to improve gene transcription and translation, and boost levels of β-globin production.
Beta thalassemia intermedia Patients may require episodic blood transfusions. Transfusion-dependent patients develop iron overload and require chelation therapy to remove the excess iron. Transmission is autosomal recessive; however, dominant mutations and compound heterozygotes have been reported. Genetic counseling is recommended and prenatal diagnosis may be offered.Alleles without a mutation that reduces function are characterized as (β). Mutations are characterized as (βo) if they prevent any formation of β chains, mutations are characterized as (β+) if they allow some β chain formation to occur.
Beta thalassemia