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Nov 3, 2016 · β-Thalassemia is caused by reduced (β+) or absent (β0) synthesis of the β-globin chains of hemoglobin. Three clinical and hematological conditions of increasing severity are recognized: the β ...
Aug 8, 2023 · Beta thalassemia major is caused by a homozygous mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions.
Thalassemia is the name of a group of genetic blood disorders. To understand how thalassemia affects the human body, you must first understand a little about how blood is made. Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta.
Beta thalassaemia. This is the most common type of thalassaemia. It is caused by mutations in 1 or 2 genes called beta globin genes. People with just 1 faulty gene (called beta thalassaemia minor or beta thalassaemia trait) will not have any symptoms, but they are carriers and can pass thalassaemia onto their children.
Thalassemia is a hemoglobinopathy that is among the most common inherited disorders of hemoglobin production. The normal adult hemoglobin molecule (Hb A) consists of 2 pairs of chains designated alpha and beta. Normal adult blood also contains ≤ 2.5% Hb A2 (composed of alpha and delta chains) and < 1.4% hemoglobin F (fetal hemoglobin), which ...
Beta thalassemia is a genetic disorder where there’s a deficiency in production of the β-globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells - or RBCs for short. Beta thalassemia is most commonly seen in Mediterranean, African and South East Asian populations. Normally, hemoglobin is made up of four globin ...
May 23, 2023 · Beta thalassemia can also occur along with other features as part of a larger syndrome such as in X-linked thrombocytopenia with thalassemia or beta thalassemia-trichothiodystrophy. Beta thalassemia may also occur along with another disorder in which there is an abnormality in the structure of hemoglobin (hemoglobinopathy).
