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Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have borderline microcytic, hypochromic anemia and they are usually asymptomatic or have mild symptoms. Beta thalassemia minor can also present as beta thalassemia silent carriers; those who inherit ...
Mechanism. Delta-beta thalassemia is autosomal recessive disorder, [1] which means both parents are affected and two copies of the gene must be present. [5] A carrier gets a normal gene to produce hemoglobin A, from one parent and the other parent supplies a gene which makes no hemoglobin A. [6] Delta-beta thalassemia is considered rare.
16,800 (2015) [6] Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the ...
The main types of thalassemia are alpha-thalassemia and beta thalassemia. The two conditions may overlap because some conditions which cause abnormalities in hemoglobin proteins also affect their production. Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies.
Cause. Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other. Mutations. A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different ...
Beta thalassemia minor results in a mild microcytic anemia that is often asymptomatic or may cause fatigue and or pale skin. Beta thalassemia major occurs when a person inherits two abnormal alleles. This can be either two β+ alleles, two β0 alleles, or one of each. Beta thalassemia major is a severe medical condition.
Additionally, individuals with beta-thalassemia exhibit a high red cell count and low hemoglobin levels. Individuals that express lower levels of hemoglobin A2, have the a 0-thalassemia trait or homozygous gene for a +-thalassemia. Laboratory methods. Hemoglobin A2 is a crucial role for screening and measuring for the beta-thalassemia trait.
In α-thalassemia, which is relatively frequent in Africa and several other countries, production of the α-chain of hemoglobin is impaired, and there is relative over-production of the β-chain. Individuals homozygous for β-thalassemia have severe anemia and are unlikely to survive and reproduce, so selection against the gene is strong.
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