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Hemoglobin H disease in children
M Wongchanchailert1, V Laosombat, M Maipang
1Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.
Insights
Hemoglobin H (Hb H) disease with Hb Constant Spring (Hb CS) presents a more severe clinical course in children. This includes lower Hb levels and increased signs of hemolysis from infancy.
Area of Science:
- Hematology
- Pediatrics
- Genetics
Background:
- Hemoglobin H (Hb H) disease is a significant inherited blood disorder.
- Understanding genotype-phenotype correlations is crucial for managing Hb H disease.
Purpose of the Study:
- To investigate the clinical impact of Hb Constant Spring (Hb CS) in children with Hb H disease.
- To compare the clinical severity between Hb H disease with and without Hb CS.
Main Methods:
- Retrospective study of 110 children with Hb H disease (1982-1988).
- Analysis of clinical presentation, laboratory findings, and presence of Hb CS.
- Comparison of disease severity based on genotype.
Main Results:
- Hb CS was identified in 55 patients.
- Children with Hb H disease and Hb CS exhibited a more severe clinical course.
- Lower steady-state hemoglobin levels and higher reticulocyte counts were observed in patients with Hb CS.
- Acute hemolysis was noted in the neonatal period, with severity differences emerging within the first year of life.
Conclusions:
- The presence of Hb CS exacerbates the clinical severity of Hb H disease in children.
- Early identification of Hb CS is important for predicting disease progression and managing affected neonates and infants.
Abstract:
One hundred and ten children with hemoglobin H (Hb H) disease who attended the hematology unit of the Department of Pediatrics at Songklanagarind Hospital from 1982 to 1988 were studied. Hb Constant spring (Hb CS) was found in 55 patients. Four patients, two with Hb CS, were diagnosed during the newborn period. Anemia and jaundice were the main symptoms in three neonates, while the fourth one was found to have anemia with hepatosplenomegaly. Nine infants were diagnosed in the first year of life with the chief symptoms of anemia with or without fever. Two of them needed blood transfusions. Hb H was found in only three infants, while Hb Bart's was the constant finding in every infant. The Hb H children with Hb CS had a more severe clinical course than the group without Hb CS. The levels of Hb at steady state were found to be lower and the reticulocyte counts, red cells with inclusion bodies and Hb H were higher in patients with Hb CS. The clinical picture of acute hemolysis in Hb H children can be found in the neonatal period and the difference in clinical severity between the two genotypes of Hb H disease seems to develop from the first year of life.