sickle cell-beta-thalassemia disease syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0019050
inherited hemoglobinopathy
is_a
Haemoglobin sickle-beta thalassemia
related
Hb S beta-thalassemia
related
Hb S-Beta thalassemia
exact
HbS - beta-thalassemia
related
HbS-beta-thalassemia syndrome
exact
Hemoglobin sickle-beta thalassemia
related
S-Beta thalassemia
exact
sickle beta thalassemia
related
sickle cell - beta-thalassemia disease
related
sickle cell-Beta thalassemia
exact
sickle cell-Beta-thalassemia
exact
sickle cell-beta-thalassemia disease syndrome
exact