Phenotypes associated with the disease Alpha-thalassemia (ORPHA:846):
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Anisopoikilocytosis (HP:0004823): A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Hemoglobin Barts (HP:0005507): Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Malar prominence (HP:0010620): Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Abnormality of immune system physiology (HP:0010978): A functional abnormality of the immune system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Hyperplasia of the maxilla (HP:0430028): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)
- Microcytic anemia (HP:0001935): A kind of anemia in which the volume of the red blood cells is reduced. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:846)
- Abnormal hemoglobin (HP:0011902): Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:846)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Extramedullary hematopoiesis (HP:0001978): The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:846)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:846)