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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-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]
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 ...
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]
Hemoglobin Lepore syndrome. A crossover between the delta and beta globin gene loci results in the mutation which causes the Hb Lepore trait. Hemoglobin Lepore syndrome is typically an asymptomatic hemoglobinopathy, which is caused by an autosomal recessive genetic mutation. The Hb Lepore variant, consisting of two normal alpha globin chains ...
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. [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 ...
Management of thalassemia. Treatment of the inherited blood disorder thalassemia depends upon the level of severity. For mild forms of the condition, advice and counseling are often all that are necessary. For more severe forms, treatment may consist in blood transfusion; chelation therapy to reverse iron overload, using drugs such as ...