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Start free with EleplanBeta-thalassemia major
ORPHA:231214Disease
Also called Beta transfusion dependent thalassemia · Beta-TDT · Cooley anemia · Mediterranean anemia
What it is
Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions.
Key facts
- Prevalence
- >1 / 1000 (Bahrain)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
8Common30–79%
16- Abnormality of iron homeostasis
- Abnormality of skeletal morphology
- Abnormality of the dentition
- Bowing of the long bones
- Dyspnea
- Extramedullary hematopoiesis
- Failure to thrive in infancy
- Feeding difficulties
- Genu valgum
- Growth delay
- Hepatomegaly
- Hyperpigmentation of the skin
- Hypersplenism
- Hypoplasia of the musculature
- Osteoporosis
- Splenomegaly
Sometimes5–29%
23- Arthralgia
- Chronic infection
- Cirrhosis
- Delayed puberty
- Depressed nasal bridge
- Diabetes mellitus
- Diarrhea
- Dilated cardiomyopathy
and 15 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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