alpha thalassemia spectrum
Findings
No curated finding names alpha thalassemia spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
Definition from the Mondo Disease Ontology (MONDO:0011399), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- Microcytic anemiaHPOHP:0001935
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Extramedullary hematopoiesisHPOHP:0001978
- Frequent (30% to 79% of cases)
- Generalized edemaHPOHP:0007430
- Frequent (30% to 79% of cases)
- HepatosplenomegalyHPOHP:0001433
- Frequent (30% to 79% of cases)
- Pericardial effusionHPOHP:0001698
- Frequent (30% to 79% of cases)
- Pleural effusionHPOHP:0002202
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Occasional (5% to 29% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- AnisopoikilocytosisHPOHP:0004823
- Occasional (5% to 29% of cases)
Show the remaining 11
- CholelithiasisHPOHP:0001081
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- Hemoglobin BartsHPOHP:0005507
- Occasional (5% to 29% of cases)
- Hemolytic anemiaHPOHP:0001878
- Occasional (5% to 29% of cases)
- Hydrops fetalisHPOHP:0001789
- Occasional (5% to 29% of cases)
- Hyperplasia of the maxillaHPOHP:0430028
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HBA1; HBA2HGNC:4823
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- HBA1; HBA2HGNC:4824
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
4 names
Resolves to: alpha thalassemia spectrum
- Also called
- alpha thalassaemiaalpha-thalassemiathalassemia, alpha-thalassemias, alpha-