Beta-thalassaemia trait: Imprecision of diagnosis at birth

B. P. Alter

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Globin chain synthesis was studied at birth in infants who had been tested for haemoglobinopathies with in utero. Subsequent haematological studies showed that five infants were normal, five had β-thalassaemia trait, and two had α-thalassaemia trait. Correct assignment of these diagnoses could not be made in individual cases from globin chain studies at birth, although the β/α ratio was 0.38 in the normal infants, and 0.22 in those with β-thalassaemia trait. Mean (β+γ)/α was 0.90 in the former, and 0.70 in the latter. Specific activity ratios (counts per minute, per absorbance at 280 nm) failed to distinguish thalassaemia trait from normal, as a group or individually. Accurate diagnosis of β-thalassaemia trait required classical haematological studies during the first year of life.

Original languageEnglish (US)
Pages (from-to)323-327
Number of pages5
JournalBritish Journal of Haematology
Issue number3
StatePublished - 1978
Externally publishedYes

ASJC Scopus subject areas

  • Hematology


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