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Cord blood study on beta-thalassemia and hemoglobin E
S Pootrakul1, V Muang-sup, S Fucharoen
1Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Insights
Early detection of hemoglobinopathies like beta-thalassemia and Hb E is possible in newborns. Analyzing red cell fragility, morphology, and hemoglobin types at birth aids in diagnosing various genetic blood disorders.
Area of Science:
- Hematology
- Medical Genetics
- Neonatology
Background:
- Hemoglobinopathies, including beta-thalassemia and Hemoglobin E (Hb E), are significant inherited blood disorders.
- Accurate diagnosis in newborns is crucial for timely management and genetic counseling.
- Distinguishing between different genetic variants (heterozygosity, homozygosity, and compound heterozygosity) can be challenging at birth.
Purpose of the Study:
- To evaluate the utility of cord blood hematologic parameters for diagnosing various hemoglobinopathies in newborns.
- To assess red cell osmotic fragility, morphology, and hemoglobin electrophoresis for identifying beta-thalassemia trait, Hb E trait, and their homozygous or compound heterozygous states.
Main Methods:
- Hematologic data, including red cell osmotic fragility, red cell morphology, and starch gel electrophoresis for hemoglobin typing, were analyzed from 18 newborn infants.
- Infants included offspring of patients with beta-thal/Hb E disease and those identified with decreased red cell osmotic fragility.
- Follow-up data were collected to confirm initial diagnoses.
Main Results:
- Hb E heterozygosity was identified in two infants with normal osmotic fragility and specific Hb E levels at birth.
- Beta-thalassemia heterozygosity was diagnosed in eleven infants based on decreased red cell osmotic fragility, microcytosis, poikilocytosis, and specific hemoglobin patterns.
- Homozygous beta-thalassemia, Hb E homozygosity, and beta-thal/Hb E disease were diagnosed in several infants based on combined hematologic findings and follow-up evaluations.
Conclusions:
- Combined analysis of red cell osmotic fragility, morphology, and starch gel electrophoresis at birth enables accurate diagnosis of beta-thalassemia trait, beta-thalassemia homozygosity, Hb E heterozygosity, Hb E homozygosity, and beta-thal/Hb E compound heterozygosity.
- These methods provide a reliable approach for early detection of significant hemoglobinopathies in the neonatal period.
- Early diagnosis facilitates appropriate clinical management and genetic counseling for affected families.
Abstract:
We describe hematologic data from 18 newborn infants including follow-up data. Of these, ten were the offspring of patients with beta-thal/Hb E disease and the remainder were infants who were found to have a decrease in red cell osmotic fragility during a random cord blood examination. The results of the cord blood study showed that two infants having normal red cell osmotic fragility with about 2% Hb E + Hb A + Hb F at birth represented Hb E heterozygosity. Eleven babies had slightly decreased red cell osmotic fragility, a mild degree of microcytosis and poikilocytosis, and hemoglobin types of Hb A + Hb F with no elevation of Hb A2 at birth. They subsequently had hematologic findings consistent with the beta-thal heterozygosity. The means of hematological values of cord blood in the beta-thal trait infants appeared to be statistically different from those in the normal infants only with respect to increased red cell count and reduced MCH. One infant was thought to have the beta-thal trait but had a greater degree of thalassemic changes in red cells; subsequently he turned out to have homozygous beta-thalassemia. Four newborn infants with hypochromia and numerous target cells had 4-7% Hb E + Hb F without Hb A. Follow-up examination showed two cases of Hb E homozygosity; however, the others, who had obvious microcytosis and poikilocytosis in cord blood, finally developed beta-thal/Hb E disease. Thus, a careful study on red cell osmotic fragility, morphology and starch gel electrophoresis at birth allows detection and diagnosis of beta-thal heterozygosity, beta-thal homozygosity, Hb E heterozygosity, Hb E homozygosity and double heterozygosity for beta-thal and Hb E.