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Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are faulty. [2]
Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction.
Beta thalassemia minor can also present as beta thalassemia silent carriers; those who inherit a beta thalassemic mutation but have no hematologic abnormalities nor symptoms. [8] Some people with thalassemia are susceptible to health complications that involve the spleen (hypersplenism) and gallstones (due to hyperbilirubinemia from peripheral ...
The main structural hemoglobin variants are HbS, HbE and HbC. The main types of thalassemia are alpha-thalassemia and beta thalassemia. [3] The two conditions may overlap because some conditions which cause abnormalities in hemoglobin proteins also affect their production.
Hemoglobin A2 (HbA 2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α 2 δ 2) and is found at low levels in normal human blood.Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene.
It is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. [ 9 ] [ 10 ] Anemia is a factor in fetuses with Hemoglobin Bart's disease as there is an "increased cardiac output" and hypovolemia as the tissues of the fetus require oxygen because of the gamma globulin's high affinity for oxygen.
Fetuses have a non-alpha chain called gamma and after birth it is then called beta. The beta chain will pair with the alpha chain. It is the combining of two alpha and non-alpha chains which create a hemoglobin molecule. Two alpha and two gamma chains form fetal hemoglobin or hemoglobin F (HbF). After the first five to six months after birth ...
The level of severity of alpha thalassemia is determined by the number of genes that are affected. [citation needed] Hemoglobin variants are most often inherited characteristics. First, abnormal beta gene can be inherited in an autosomal recessive fashion. This means that the person who inherits this will have two copies of the altered gene.
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