Research Evidence
Peer-reviewed studies linked via MeSH term "alpha-Thalassemias" from the MEDLINE/PubMed database.
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Alpha thalassemia/mental retardation X-linked (ATRX) protein expression in human pituitary neuroendocrine tumours and its reported correlation to prognosis and clinical outcomes: A systematic review.
[object Object], [object Object], [object Object] · PLoS One · 2025
Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.
[object Object], [object Object], [object Object] et al. · Indian J Med Res · 2025
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
[object Object], [object Object], [object Object] et al. · JAMA Netw Open · 2023
Epidemiology of clinically significant forms of alpha- and beta-thalassemia: A global map of evidence and gaps.
[object Object], [object Object], [object Object] et al. · Am J Hematol · 2023
PMID: 37357829Meta-Analysis
Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies: A Systematic Review.
[object Object], [object Object], [object Object] · Arq Bras Cardiol · 2022
PMID: 36417618Meta-Analysis
The worldwide molecular spectrum and distribution of thalassaemia: a systematic review.
[object Object], [object Object], [object Object] · Ann Hum Biol · 2021
PMID: 34032183Meta-Analysis
Acquired alpha thalassemia associated with myeloid malignancy: A systematic literature review.
[object Object], [object Object] · Leuk Res · 2021
PMID: 34325177Meta-Analysis
ATR-X syndrome: genetics, clinical spectrum, and management.
[object Object], [object Object] · Hum Genet · 2021
PMID: 34524523Meta-Analysis
Prevalence of Alpha(α)-Thalassemia in Southeast Asia (2010-2020): A Meta-Analysis Involving 83,674 Subjects.
[object Object], [object Object], [object Object] · Int J Environ Res Public Health · 2020
Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis.
[object Object], [object Object], [object Object] · Lancet Infect Dis · 2012
Search all PubMed articles for Alpha thalassaemia syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal Hb
Very frequent (80-99%)HP:0011902
Microcytic anemia
Very frequent (80-99%)HP:0001935
Cardiac insufficiency
Frequent (30-79%)HP:0001635
Extramedullary hematopoiesis
Frequent (30-79%)HP:0001978
Fluid around lungs
Frequent (30-79%)HP:0002202
Generalised oedema
Frequent (30-79%)HP:0007430
Hepatosplenomegaly
Frequent (30-79%)HP:0001433
Pericardial effusions
Frequent (30-79%)HP:0001698
Reticulocytosis
Frequent (30-79%)HP:0001923
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Anisopoikilocytosis
Occasional (5-29%)HP:0004823
Cognitive deficits
Occasional (5-29%)HP:0100543
Gallstones
Occasional (5-29%)HP:0001081
Hemoglobin Barts
Occasional (5-29%)HP:0005507
Hemolytic anaemia
Occasional (5-29%)HP:0001878
Hydrops fetalis
Occasional (5-29%)HP:0001789
Hyperplasia of malar bones
Occasional (5-29%)HP:0010620
Hypersplenism
Occasional (5-29%)HP:0001971
Large spleen
Occasional (5-29%)HP:0001744
Low number of red blood cells or haemoglobin
Occasional (5-29%)HP:0001903
Maxillary prognathia
Occasional (5-29%)HP:0430028
Myelodysplasia
Occasional (5-29%)HP:0002863
Yellowing of the skin
Occasional (5-29%)HP:0000952
Hypochromic, microcytic anaemia
HP:0004840
Reduced alpha/beta synthesis ratio
HP:0011907
Related Conditions
Haemoglobin Constant Spring trait(child)
Alpha plus thalassemia(child)
Hemoglobin H disease(child)
Hemoglobin Bart's hydrops syndrome(child)
Alpha zero thalassemia(child)
Alpha trait thalassemia(child)
Homozygous alpha thalassemia(child)
Alpha thalassemia-2 trait(child)
Sickle cell anemia with coexistent alpha-thalassemia(child)
Sickle cell trait with coexistent alpha-thalassemia(child)
Haemoglobin H constant spring thalassaemia(child)
Alpha thalassemia X-linked intellectual disability syndrome(child)
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16(child)
Haemoglobin Paksé disease(child)
Hemoglobin Seal Rock disease(child)
Alpha thalassaemia trait in mother complicating pregnancy(child)
Thalassemia(parent)
Quick Facts
- SNOMED CT
- 68913001
- UMLS CUI
- C0002312
- Fully Specified Name
- Alpha thalassemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.