For diagnosis of beta- and beta
delta-thalassemia in the first year of life the physiological changes of
hemoglobin F and A2 levels occurring in this age group have to be considered. The analysis of the
hemoglobin pattern in 29 cases of
thalassemia major and 285 cases of
thalassemia trait, 47 of them aged less than one year, showed that all cases of homozygous
beta-thalassemia aged less than one year could be diagnosed by definitely increased
hemoglobin F levels exceeding the normal range for the appropriate age. In children older than ten years and in adults with heterozygous
beta-thalassemia, the diagnosis could be made accurately by increased
hemoglobin A2 levels in 97 percent. In children between one and ten years only 77 percent and in infants aged less than one year only 55 percent of the cases showed increases
hemoglobin A2 levels. In contrast to adults, the
hemoglobin F level seems to be helpful for the diagnosis of
thalassemia trait. The younger the patient the more is the
hemoglobin F level increased above the normal range for the appropriate age. It appears impossible to differentiate between beta- and beta
delta-thalassemia trait when
hemoglobin A2 is normal or low.