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Sickle cell-beta-thalassemia disease syndrome

MONDO:0016668

Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people have a differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leads to the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person.

Also known as: Hb S-Beta thalassemia, HbS-beta-thalassemia syndrome, S-Beta thalassemia, sickle cell-Beta thalassemia, sickle cell-Beta-thalassemia, sickle cell-beta-thalassemia disease syndrome, Haemoglobin sickle-beta thalassemia, Hb S beta-thalassemia

21 clinical trials for this condition and its sub-types.

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Sub-types

Sickle cell-beta zero-thalassemia (6) Sickle cell-beta plus-thalassemia (5)

Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Inherited hemoglobinopathy (35) Hemoglobinopathy (31) Syndromic disease (25) Human disease (14) Erythrocyte disorder (6) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Trials to join now! 9 Not yet recruiting 1 Not yet finished but already full! 3 Completed 8
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