syndromic disease sickle cell-beta-thalassemia disease syndrome https://github.com/monarch-initiative/mondo/issues/6746 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia https://www.malacards.org/card/sickle_cell_beta_thalassemia_disease_syndrome NCIT:C95539 Hb S-Beta thalassemia sickle cell-beta-thalassemia disease syndrome UMLS:C0221019 HbS - beta-thalassemia Haemoglobin sickle-beta thalassemia Hemoglobin sickle-beta thalassemia 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. Orphanet:251359 sickle cell-Beta-thalassemia HbS-beta-thalassemia syndrome SCTID:127041004 sickle cell - beta-thalassemia disease Hb S beta-thalassemia S-Beta thalassemia sickle beta thalassemia MONDO:0016668 GARD:0010333 MedDRA:10055579 MEDGEN:452211 sickle cell-Beta thalassemia MedDRA:10040655 inherited hemoglobinopathy