History and exam
Key diagnostic factors
common
country of origin or ancestry
Mutations in the beta-globin gene cluster occur at high frequencies (>1%) in regions including the Mediterranean, Middle East, northern Africa, India, and almost all of Southeast Asia.[3]
family history
Beta-thalassemia major or trait, need for blood transfusions, or anemia, often specifically unresponsive to iron therapy, in family members.
asymptomatic
Sign of beta-thalassemia trait.
Other diagnostic factors
common
lethargy
Highly suggestive of moderate or severe anemia in beta-thalassemia major and intermedia.
abdominal distension
Symptom of beta-thalassemia major and intermedia. Due to hepatosplenomegaly. Described by parents as progressive. May or may not have noted actual masses.
failure to gain weight
Symptom of beta-thalassemia major and intermedia.
low height and weight
Both usually below expected percentiles in beta-thalassemia major and intermedia. More pronounced in older untreated people.
pallor
A sallow appearance and variable pallor of the conjunctivae, nail beds, and mucous membranes in beta-thalassemia major and intermedia. Highly suggestive of moderate or severe anemia.
May be mild in beta-thalassemia trait.
spinal changes
Frequently seen in the thalassemia syndromes.
In beta-thalassemia major, patients may have osteopenia related to iron overload. In beta-thalassemia intermedia, there is persistence of erythropoiesis, with marrow expansion in the vertebral bodies, making the spine osteopenic and prone to deformity. Masses of hematopoietic tissue may extrude from the vertebral bodies in beta-thalassemia intermedia patients with extreme marrow hyperplasia.
large head
A large head with frontal and parietal bossing is a sign of beta-thalassemia major and intermedia.
chipmunk facies
Sign of beta-thalassemia major and intermedia.
misaligned teeth
Sign of beta-thalassemia major and intermedia.
hepatosplenomegaly
Sign of beta-thalassemia major and intermedia. Degree varies based on age at diagnosis and severity of anemia.
jaundice
Sign of beta-thalassemia major and intermedia. Usually mild, but may be more pronounced if thalassemia intermedia, or associated with Hb E heterozygosity.
Chronic elevations of bilirubin may result in gallstones, which may be another presenting feature in these individuals.
Risk factors
strong
positive family history
The risk for beta-thalassemia major, an autosomal recessive genetic condition, is 25% for each pregnancy when both parents are heterozygous for beta-thalassemia mutations.
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