Tunnused

Geeniga HBB seotud tunnused

hemoglobin subunit beta

Inimese fenotüübi ontoloogia seostab geeniga HBB 134 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

HBB

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Chronic hemolytic anemia	Alati
Decreased mean corpuscular hemoglobin concentration	Alati
Erythrocyte inclusion bodies	Alati
Increased circulating hemoglobin concentration	Alati
Increased HbA2 hemoglobin	Alati
Increased hematocrit	Alati
Increased red blood cells	Alati
Microcytic anemia	Alati
Persistence of hemoglobin F	Alati
Abnormal hemoglobin	Väga sageli (80–99%)
Anemia of inadequate production	Väga sageli (80–99%)
Anisopoikilocytosis	Väga sageli (80–99%)
Decreased mean corpuscular volume	Väga sageli (80–99%)
Hemolytic anemia	Väga sageli (80–99%)
Hypochromia	Väga sageli (80–99%)
Hypochromic microcytic anemia	Väga sageli (80–99%)
Imbalanced hemoglobin synthesis	Väga sageli (80–99%)
Increased red blood cell count	Väga sageli (80–99%)
Low number of red blood cells or hemoglobin	Väga sageli (80–99%)
Reduced hemoglobin A	Väga sageli (80–99%)
Elevated white blood count	Sageli (30–79%)
Erythroid hyperplasia	Sageli (30–79%)
Extramedullary hematopoiesis	Sageli (30–79%)
HbS hemoglobin	Sageli (30–79%)
Hypercoagulability	Sageli (30–79%)
Increased immature red blood cells	Sageli (30–79%)
Increased number of platelets in blood	Sageli (30–79%)
Iron deficiency anemia	Sageli (30–79%)
Reduced alpha/beta synthesis ratio	Sageli (30–79%)
Reduced beta/alpha synthesis ratio	Sageli (30–79%)
Unequal size of red blood cells	Sageli (30–79%)
Blood clot in vein	Mõnikord (5–29%)
Drug-sensitive hemolytic anemia	Mõnikord (5–29%)
Hyphema	Mõnikord (5–29%)
Increased red cell osmotic resistance	Mõnikord (5–29%)
Increased red cell sickling tendency	Mõnikord (5–29%)
Sickled erythrocytes	Mõnikord (5–29%)
Hypochromic anemia	Harva (1–4%)
Increased mean corpuscular volume	Harva (1–4%)
Heinz bodies	Pole registreeritud
Heinz body anemia	Pole registreeritud
Methemoglobinemia	Pole registreeritud
Nonspherocytic hemolytic anemia	Pole registreeritud
Target cells	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Increased spleen size	Alati
Abnormality of the spleen	Sageli (30–79%)
Hypersplenism	Sageli (30–79%)
Abnormality of the cardiovascular system	Mõnikord (5–29%)
Abnormality of the vasculature	Mõnikord (5–29%)
Absent spleen	Mõnikord (5–29%)
Enlarged liver and spleen	Mõnikord (5–29%)
High-output congestive heart failure	Mõnikord (5–29%)
Increased blood pressure in blood vessels of lungs	Mõnikord (5–29%)
Ischemic stroke	Mõnikord (5–29%)
Splenic infarction	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Abnormal heart rate	Harva (1–4%)
Enlarged heart	Pole registreeritud
High blood pressure	Pole registreeritud
Stroke	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver	Alati
Feeding difficulties	Sageli (30–79%)
Jaundice	Sageli (30–79%)
Pigment gallstones	Sageli (30–79%)
Abdominal pain	Mõnikord (5–29%)
Abnormality of the liver	Mõnikord (5–29%)
Chronic liver inflammation	Mõnikord (5–29%)
Decreased liver function	Mõnikord (5–29%)
Diarrhea	Mõnikord (5–29%)
Gallstones	Mõnikord (5–29%)
Hepatic fibrosis	Mõnikord (5–29%)
Impaired release of bile from liver	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)
Hepatocellular carcinoma	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Osteoporosis	Väga sageli (80–99%)
Abnormal bone structure	Sageli (30–79%)
Abnormality of the skeletal system	Sageli (30–79%)
Abnormally shaped skeletal	Sageli (30–79%)
Death of bone due to decreased blood supply	Sageli (30–79%)
Increased susceptibility to fractures	Sageli (30–79%)
Low solidness and mass of the bones	Sageli (30–79%)
Poorly developed skeletal musculature	Sageli (30–79%)
Osteopenia	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Abnormality of iron homeostasis	Sageli (30–79%)
Diabetes mellitus	Mõnikord (5–29%)
Elevated creatinine	Mõnikord (5–29%)
Episodic fever	Mõnikord (5–29%)
Increased circulating lactate dehydrogenase concentration	Mõnikord (5–29%)
Increased iron concentration in liver	Mõnikord (5–29%)
Unconjugated hyperbilirubinemia	Mõnikord (5–29%)
Blood in urine	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormal dentition	Sageli (30–79%)
Big maxilla	Mõnikord (5–29%)
Depressed nasal bridge	Mõnikord (5–29%)
Frontal bossing	Mõnikord (5–29%)
Malar prominence	Mõnikord (5–29%)
Retinal arterial occlusion	Mõnikord (5–29%)
Upward slanting of the opening between the eyelids	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased parathyroid hormone secretion	Mõnikord (5–29%)
Delayed puberty	Mõnikord (5–29%)
Hypopituitarism	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)
Adrenal insufficiency	Harva (1–4%)
Decreased activity of gonads	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Väga sageli (80–99%)
Bone infection	Sageli (30–79%)
Chronic infection	Mõnikord (5–29%)
Severe infection	Mõnikord (5–29%)
Recurrent bacterial infections	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Chronic kidney disease	Sageli (30–79%)
Priapism	Mõnikord (5–29%)
Proximal tubulopathy	Mõnikord (5–29%)
Renal failure	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Paleness	Väga sageli (80–99%)
Open skin sore	Sageli (30–79%)
Patchy darkened skin	Sageli (30–79%)
Blue discoloration of the skin	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bowing of the long bones	Sageli (30–79%)
Knock knees	Sageli (30–79%)
Sausage fingers	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the nervous system	Mõnikord (5–29%)
Irritability	Mõnikord (5–29%)
Pressure on spinal cord	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulty	Sageli (30–79%)
Low blood oxygen level	Mõnikord (5–29%)
Lung infiltrates	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Pain	Väga sageli (80–99%)
Chest pain	Sageli (30–79%)
Joint pain	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Sageli (30–79%)
Growth delay	Sageli (30–79%)
Prenatal growth deficiency	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Noninflammatory retina disease	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga HBB seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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