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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 ...
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 at one in 100,000. [4]
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2] This leads to a rigid, sickle -like shape under ...
The cause for the disorder is related to a genetic mutation of the HBB gene. This gene is responsible for providing the instructions to produce beta-globin; one of the major components of hemoglobin. The two classification types of beta thalassemia are thalassemia major (also known as Cooley's anemia) and thalassemia intermedia. [30]
Sickle cell-beta thalassemia. Sickle cell beta thalassemia. Other names. Sickle cell-β thalassemia. Specialty. Hematology. Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease. [1][2]
Hematology. Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous). Those who are heterozygous for the sickle cell allele produce both ...
Counseling is indicated in all persons with genetic disorders, especially when the family is at risk of a severe form of disease that may be prevented. [4] Severe thalassemia : Patients with severe thalassemia require medical treatment. A blood transfusion regimen was the first measure effective in prolonging life. [2]
Specialty. Hematology. Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. [2]
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