Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy

Abstract

The haematological and clinical data in 254 Italian subjects with beta-thalassaemia trait are reported. 46% of the patients were anaemic, 40% complained of weakness, 19% showed enlargement of the spleen and 10% enlargement of the liver. The haemoglobin levels ranged from 8 to 15.5 g/dl with a normal distribution and a mean of 12.73 for males, 10.93 for females and 11.34 for children (4-15 years). Reticulocyte counts and serum bilirubin levels were slightly increased and both showed a statistically significant relationship with haemoglobin levels. The serum iron level was increased in 27% and decreased in 6% of the cases. Haemoglobin A2 concentrations ranged from 3.5% to 8% with a normal distribution and a mean of 5.37; Hb F values were less than 1% in 36% and varied from 1 to 14% in the remainder. Red cell osmotic fragility was decreased in all but 6% of the subjects: low MCV, MCH and MCHC values were observed in 75%, 86% and 10% respectively. A comparison is made between the data and those obtained by other workers.

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“…In the present study, majority of the patients (52.67%) were clinically asymptomatic which corroborates with the work done by Mazza et al, [7] in African Americans, Knox Maculay et al, [8] in British population and Pootrakulate et al, [9] in the Chinese subjects where there was no appreciable symptomatology.…”

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“…These data are similar to those reported by Knox-Macaulay et al [1973]. On the other hand, reduced MCV was found in 75 and 67% of the /Mhalassaemic heterozygotes of the series reported by Mazza et al [1976] and Poolrakul et al [1973]. Similarly, one of the present authors (M.…”

“…On the other hand, of the red cell indices MCHC was reduced in 74% of 164 /Mhalassaemic individuals. In contrast to our results, in the series of Mazza et al [1976] andPoolrakul et al [1973] only in 6 and 10°/o of their thalassaemic subjects, were the MCHCs below those of their nor mal controls. The discrepancy between our results and those of the above-mentioned investigators is difficult to explain.…”

“…There was a mild or moderate anaemia in 120 out of 164 /Mhalassaemic heterozygotes (73%). This result is comparatively higher than those of Poolrakul et al [1973] and Mazza et al [1976], These investigators classed 46% of their /Mhalassaemic subjects as an aemic. In all /Mhalassaemic heterozygotes low indices for MCV and MCH were found.…”

“…These ex amples are in accordance with the results of Poolrakul el al. [1973] and Mazza et al [1976], concerning the difference in the se verity of the findings obtained in /?°-and //Mhalassaemic heterozygotes.…”