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sickle cell anemia

Disease Summary
Associated Targets (34)
Tbio

22

Tclin

7

Tchem

3

Tdark

2


GARD Rare
Mondo Description Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.
Uniprot Description Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues.
Disease Ontology Description A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.
Mondo Term and Equivalent IDs
MONDO:0011382:  sickle cell anemia
EFO:1001797: 
GARD:0008614: 
MESH:D000755: 
NCIT:C34383: 
Orphanet:232: 
UMLS:C0002895: