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Hematology of beta-thalassemia trait--age-related developmental aspects and intrafamilial correlations
Insights
Beta-thalassemia trait in children causes microcytic anemia. Mean corpuscular volume (MCV) values are key for early detection, showing distinct age-related patterns compared to hemoglobin levels.
Area of Science:
- Hematology
- Pediatrics
- Genetics
Background:
- Beta-thalassemia trait is a common cause of microcytic anemia in Mediterranean children.
- Hemoglobin and mean corpuscular volume (MCV) exhibit significant age-related changes during childhood.
Purpose of the Study:
- To assess the developmental hematologic characteristics of children and adolescents with beta-thalassemia trait.
- To examine intrafamilial correlations of hematologic abnormalities in beta-thalassemia trait.
Main Methods:
- Studied 132 patients (≤18 years) with beta-thalassemia trait.
- Analyzed hematologic parameters including hemoglobin (Hgb), MCV, and hemoglobin A2 levels.
- Investigated 39 kindred to assess intrafamilial correlations.
Main Results:
- Beta-thalassemia trait patients had lower Hgb levels than normal, with age-related increases paralleling normal trends.
- MCV showed a greater deviation from normal than Hgb, with no significant age-related increase before adolescence.
- Intrafamilial correlations confirmed genetic determination for anemia, microcytosis, and elevated hemoglobin A2 levels.
Conclusions:
- Electronically determined MCV values are effective for initial screening of beta-thalassemia trait in children.
- Specific MCV thresholds (<70 fL before adolescence, <75 fL during adolescence) identify most affected subjects.
- Hematologic abnormalities in beta-thalassemia trait are genetically determined, as supported by intrafamilial correlations.
Abstract:
Beta-thalassemia trait is a frequent cause of microcytic anemia in Mediterranean children. Because striking age-related changes occur in hemoglobin and mean corpuscular volume during childhood, we assessed developmental hematologic characteristics of 132 patients less than or equal to 18 years of age with beta-thalassemia trait. Thirty-nine kindred were studied to examine intrafamilial correlations of hematologic abnormalities. Patients with beta-thalassemia trait demonstrated Hgb values about 2 gm/dl below normal standards, with a progressive rise with age paralleling normal trends. Thalassemic MCV values showed a far greater deviation from normal than Hgb levels. In contrast to normal developmental trends which show a sharp increase in the first five years of life, the MCV in thalassemia trait showed no age-related increase prior to adolescence. No age-related changes in hemoglobin A2 levels were noted. Kindred studies demonstrate a correlation of the degree of anemia, microcytosis, and elevated hemoglobin A2 levels in affected family members (r = 0.318 P < 0.004, r = 0.525 P < 0.001, r = 0.416 P < 0.0015, respectively). Our findings support the use of electronically determined MCV values as an initial screening procedure for children with beta-thalassemia trait. Values of < 70 fl prior to adolescence and < 75 fl during adolescence were present in nearly all thalassemic subjects. Intrafamilial correlations of Hgb, MCV, and hemoglobin A2 levels suggest that these characteristics are genetically determined.