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Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 4 ]
Carriers of thalassemia genes may have no symptoms (thalassemia minor), very mild symptoms with occasional crisis (thalassemia intermedia) or severe and life threatening symptoms (thalassemia major). [21] Alpha thalassemia major is generally fatal to the unborn child, as the absence of alpha globin means that zero functional hemoglobin is ...
Thalassemia subtypes of clinical significance are alpha thalassemia and beta thalassemia. A third subtype, delta thalassemia, affects production of HBA2 and is generally asymptomatic. [26] The severity of alpha thalassemia depends on how many of the four genes that code for alpha globin are faulty.
Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. [1]
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.
Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have microcytosis with borderline hypochromic anemia and they are usually asymptomatic or have mild symptoms. [8] Beta thalassemia minor can also present as beta thalassemia silent carriers; those ...
Alpha-thalassemia, like sickle cell trait, is typically inherited in areas with increased exposure to malaria. It manifests itself as a decreased expression of alpha-globin chains, causing an imbalance and excess of beta-globin chains, and can occasionally result in anemic symptoms.
Hemoglobin variants can be discovered through examination, routine laboratory testing, or evaluation of patients with severe anemia. [3] In some countries, all newborns are tested for hemoglobinopathies, thalassemias, and HbS.
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