Trăsături

Trăsături asociate cu HBB

hemoglobin subunit beta

Human Phenotype Ontology asociază 134 trăsături cu HBB, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of blood and blood-forming tissues

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

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Întotdeauna
Abnormality of the spleen	Des (30–79%)
Hypersplenism	Des (30–79%)
Abnormality of the cardiovascular system	Uneori (5–29%)
Abnormality of the vasculature	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
High-output congestive heart failure	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Splenic infarction	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Abnormal heart rate	Rar (1–4%)
Enlarged heart	Neînregistrat
High blood pressure	Neînregistrat
Stroke	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Feeding difficulties	Des (30–79%)
Jaundice	Des (30–79%)
Pigment gallstones	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Chronic liver inflammation	Uneori (5–29%)
Decreased liver function	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Hepatic fibrosis	Uneori (5–29%)
Impaired release of bile from liver	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Hepatocellular carcinoma	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Osteoporosis	Foarte des (80–99%)
Abnormal bone structure	Des (30–79%)
Abnormality of the skeletal system	Des (30–79%)
Abnormally shaped skeletal	Des (30–79%)
Death of bone due to decreased blood supply	Des (30–79%)
Increased susceptibility to fractures	Des (30–79%)
Low solidness and mass of the bones	Des (30–79%)
Poorly developed skeletal musculature	Des (30–79%)
Osteopenia	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Abnormality of iron homeostasis	Des (30–79%)
Diabetes mellitus	Uneori (5–29%)
Elevated creatinine	Uneori (5–29%)
Episodic fever	Uneori (5–29%)
Increased circulating lactate dehydrogenase concentration	Uneori (5–29%)
Increased iron concentration in liver	Uneori (5–29%)
Unconjugated hyperbilirubinemia	Uneori (5–29%)
Blood in urine	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal dentition	Des (30–79%)
Big maxilla	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Malar prominence	Uneori (5–29%)
Retinal arterial occlusion	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased parathyroid hormone secretion	Uneori (5–29%)
Delayed puberty	Uneori (5–29%)
Hypopituitarism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)
Adrenal insufficiency	Rar (1–4%)
Decreased activity of gonads	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Foarte des (80–99%)
Bone infection	Des (30–79%)
Chronic infection	Uneori (5–29%)
Severe infection	Uneori (5–29%)
Recurrent bacterial infections	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Chronic kidney disease	Des (30–79%)
Priapism	Uneori (5–29%)
Proximal tubulopathy	Uneori (5–29%)
Renal failure	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Paleness	Foarte des (80–99%)
Open skin sore	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Blue discoloration of the skin	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bowing of the long bones	Des (30–79%)
Knock knees	Des (30–79%)
Sausage fingers	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormality of the nervous system	Uneori (5–29%)
Irritability	Uneori (5–29%)
Pressure on spinal cord	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulty	Des (30–79%)
Low blood oxygen level	Uneori (5–29%)
Lung infiltrates	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	Foarte des (80–99%)
Chest pain	Des (30–79%)
Joint pain	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Des (30–79%)
Growth delay	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Noninflammatory retina disease	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu HBB și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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