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thal·as·se·mi·a
/ˌTHaləˈsēmēə/noun
- 1. any of a group of hereditary hemolytic diseases caused by faulty hemoglobin synthesis, widespread in Mediterranean, African, and Asian countries.
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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 red blood cells live. [1]
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood.
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-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]
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.
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.
Thalassemia Alpha-thalassemia. Hemoglobin Barts hydrops fetalis is the most severe form of alpha-thalassemia, and individuals with this disease have severe anemia during the fetal stage of development. It has been considered as fatal until advances in treatment were made.
There is a variety of phenotypes depending on the interaction of HbE and α-thalassemia. The presence of the α-thalassemia reduces the amount of HbE usually found in HbE heterozygotes. In other cases, in combination with certain thalassemia mutations, it provides an increased resistance to malaria (P. falciparum).
Since hemoglobin Barts is elevated in alpha thalassemia, it can be measured, providing a useful screening test for this disease in some populations. The ability to measure hemoglobin Barts makes it useful in newborn screening tests.
Beta-thalassemia. Beta-thalassemia (β-thalassemia) is an inherited mutation of the β-globulin gene which causes the reduced synthesis of the β-globin chain of hemoglobin. The majority of the mutations are point mutations that affect translation, transcriptional control, and splicing of the hemoglobin β gene and gene product.
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