Požymiai

Su HBB susiję požymiai

hemoglobin subunit beta

Žmogaus fenotipo ontologija sieja 134 požymių su HBB, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of blood and blood-forming tissues

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

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Increased spleen size	Visada
Abnormality of the spleen	Dažnai (30–79%)
Hypersplenism	Dažnai (30–79%)
Abnormality of the cardiovascular system	Kartais (5–29%)
Abnormality of the vasculature	Kartais (5–29%)
Absent spleen	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
High-output congestive heart failure	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Splenic infarction	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Abnormal heart rate	Retai (1–4 %)
Enlarged heart	Neužfiksuota
High blood pressure	Neužfiksuota
Stroke	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged liver	Visada
Feeding difficulties	Dažnai (30–79%)
Jaundice	Dažnai (30–79%)
Pigment gallstones	Dažnai (30–79%)
Abdominal pain	Kartais (5–29%)
Abnormality of the liver	Kartais (5–29%)
Chronic liver inflammation	Kartais (5–29%)
Decreased liver function	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Gallstones	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Impaired release of bile from liver	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Hepatocellular carcinoma	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Osteoporosis	Labai dažnai (80–99%)
Abnormal bone structure	Dažnai (30–79%)
Abnormality of the skeletal system	Dažnai (30–79%)
Abnormally shaped skeletal	Dažnai (30–79%)
Death of bone due to decreased blood supply	Dažnai (30–79%)
Increased susceptibility to fractures	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Poorly developed skeletal musculature	Dažnai (30–79%)
Osteopenia	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Abnormality of iron homeostasis	Dažnai (30–79%)
Diabetes mellitus	Kartais (5–29%)
Elevated creatinine	Kartais (5–29%)
Episodic fever	Kartais (5–29%)
Increased circulating lactate dehydrogenase concentration	Kartais (5–29%)
Increased iron concentration in liver	Kartais (5–29%)
Unconjugated hyperbilirubinemia	Kartais (5–29%)
Blood in urine	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal dentition	Dažnai (30–79%)
Big maxilla	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Malar prominence	Kartais (5–29%)
Retinal arterial occlusion	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased parathyroid hormone secretion	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)
Hypopituitarism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)
Adrenal insufficiency	Retai (1–4 %)
Decreased activity of gonads	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Labai dažnai (80–99%)
Bone infection	Dažnai (30–79%)
Chronic infection	Kartais (5–29%)
Severe infection	Kartais (5–29%)
Recurrent bacterial infections	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Chronic kidney disease	Dažnai (30–79%)
Priapism	Kartais (5–29%)
Proximal tubulopathy	Kartais (5–29%)
Renal failure	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Paleness	Labai dažnai (80–99%)
Open skin sore	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Blue discoloration of the skin	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bowing of the long bones	Dažnai (30–79%)
Knock knees	Dažnai (30–79%)
Sausage fingers	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormality of the nervous system	Kartais (5–29%)
Irritability	Kartais (5–29%)
Pressure on spinal cord	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Dažnai (30–79%)
Low blood oxygen level	Kartais (5–29%)
Lung infiltrates	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Pain	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)
Joint pain	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight in infancy	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Noninflammatory retina disease	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su HBB susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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