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Hemoglobin E-thalassaemia in a Sikh child: a case report
1Department of Pathology, Christian Medical College & Hospital, Ludhiana. n_kakkar@satyam.net.in
Indian Journal of Pathology & Microbiology
|June 10, 2006
Summary
Hemoglobin E-thalassaemia, a serious blood disorder, is rare in Punjab. This case highlights its uncommon occurrence in the Sikh population, emphasizing the need for awareness.
Area of Science:
- Genetics
- Hematology
Background:
- Hemoglobin E (HbE) is a beta-globin variant.
- HbE interacts significantly with thalassaemia, potentially causing severe anemia.
Observation:
- Compound heterozygosity for HbE and thalassaemia can lead to thalassaemia intermedia/major.
- Individuals with this condition often require regular blood transfusions.
Findings:
- Hemoglobin E is prevalent in Northeast India but less common elsewhere.
- Cases of HbE are rare in the Punjabi population.
Implications:
- Presents a rare case of HbE-thalassaemia in a Sikh child from Punjab.
- Underscores the unusual occurrence of this genetic blood disorder in the native Punjabi population.
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