Homozygous beta thalassemia

disorder

SNOMED 26682008CUI C0002875

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Anisopoikilocytosis

Very frequent (80-99%)HP:0004823

Decreased mean corpuscular haemoglobin

Very frequent (80-99%)HP:0025547

Hypochromic, microcytic anaemia

Very frequent (80-99%)HP:0004840

Ineffective erythropoiesis

Very frequent (80-99%)HP:0010972

Microcytosis

Very frequent (80-99%)HP:0025066

Paleness

Very frequent (80-99%)HP:0000980

Persistence of haemoglobin F

Very frequent (80-99%)HP:0011904

Reduced HbA

Very frequent (80-99%)HP:0011905

Abnormal skeletal morphology

Frequent (30-79%)HP:0011842

Abnormality of iron homeostasis

Frequent (30-79%)HP:0011031

Bowed long bones

Frequent (30-79%)HP:0006487

Dental problems

Frequent (30-79%)HP:0000164

Difficulty breathing

Frequent (30-79%)HP:0002094

Enlarged liver

Frequent (30-79%)HP:0002240

Extramedullary erythropoiesis

Frequent (30-79%)HP:0001978

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Feeding difficulties

Frequent (30-79%)HP:0011968

Genu valga

Frequent (30-79%)HP:0002857

Growth failure

Frequent (30-79%)HP:0001510

Hypersplenism

Frequent (30-79%)HP:0001971

Large spleen

Frequent (30-79%)HP:0001744

Melanoderma

Frequent (30-79%)HP:0000953

Osteoporosis

Frequent (30-79%)HP:0000939

Underdeveloped muscles

Frequent (30-79%)HP:0009004

Arthritic pain

Occasional (5-29%)HP:0002829

Blood clot in vein

Occasional (5-29%)HP:0004936

Chronic infection

Occasional (5-29%)HP:0031035

Cirrhosis

Occasional (5-29%)HP:0001394

Delayed puberty

Occasional (5-29%)HP:0000823

Diabetes mellitus

Occasional (5-29%)HP:0000819

Related Conditions

Beta thalassemia(parent)

Quick Facts

SNOMED CT: 26682008
UMLS CUI: C0002875
Fully Specified Name: Homozygous beta thalassemia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.