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Thalassemia intermedia in an infant
L Chakova1, M Spasova, E Genev
1Department of Paediatrics, Higher Medical Institute, Plovdiv, Bulgaria.
Folia Medica
|June 19, 1998
Insights
A rare genetic blood disorder, Lepore/beta thalassemia, was identified in an infant presenting with jaundice and anemia. This condition, caused by structural variants, was also found in the child's father.
Area of Science:
- Hematology
- Medical Genetics
- Pediatrics
Background:
- Beta-thalassemia is a group of inherited blood disorders characterized by reduced or absent synthesis of beta-globin chains.
- Lepore hemoglobinopathies are rare structural variants of beta-thalassemia.
Observation:
- A two-year-old infant presented with neonatal jaundice, anemia, and splenohepatomegaly.
- Clinical presentation suggested a significant hemoglobinopathy.
Findings:
- Hemoglobin electrophoresis revealed double heterozygosity for Lepore/beta-thalassemia in the infant and the father.
- The infant's uncle was diagnosed with heterozygous beta-thalassemia.
Implications:
- This case highlights the importance of genetic analysis in diagnosing complex hemoglobinopathies.
- Understanding structural variants like Lepore hemoglobin is crucial for genetic counseling and management of thalassemia syndromes.
Abstract:
We present a case of a two year old infant with jaundice in the neonatal period, anemia and splenohepatomegaly. Hemoglobin electrophoresis of the child and siblings revealed double heterozygosity of Lepore/beta thalassemia in the child and father, and heterozygous beta-thalassemia in the uncle. Structural variants giving rise to thalassemia phenotype are discussed.