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Hb SE disease: a clinico-hematological profile
Pravas Mishra1, H P Pati, Tathagat Chatterjee
1Department of Hematology, All-India Institute of Medical Sciences, New Delhi, India.
Annals of Hematology
|June 11, 2005
Summary
Hemoglobin SE (Hb SE) disease, a double heterozygous state for Hb S and Hb E, is rare. While often mild, this condition can cause symptoms like gallstones in some individuals.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hemoglobinopathies, including sickle cell disease (Hb SS) and hemoglobin E (Hb E) disorders, are prevalent globally.
- The double heterozygous state of Hemoglobin SE (Hb SE) is a rare genetic condition, with limited cases documented in medical literature.
- Previous understanding suggested Hb SE is largely asymptomatic compared to Hb SS.
Observation:
- This report details two new cases of Hb SE disease.
- One patient presented with symptomatic gallstones, while the other remained asymptomatic.
- A literature review of 27 reported Hb SE cases revealed that 40.7% exhibited clinical symptoms.
Findings:
- Clinical presentation in Hb SE disease varies, ranging from asymptomatic to symptomatic.
- No clear correlation was found between gender, specific hematological parameters, or levels of Hb S, Hb E, or Hb F and the clinical severity of Hb SE.
- The previously held notion of Hb SE being consistently asymptomatic is challenged by these findings.
Implications:
- Further research is needed to understand the full clinical spectrum and potential complications of Hb SE disease.
- Clinical vigilance is warranted for individuals with Hb SE, as symptomatic presentation is possible.
- This study contributes to a better understanding of rare hemoglobinopathies and their variable clinical outcomes.