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Hemoglobin E disorders in Eastern Uttar Pradesh.

Shashikant C U Patne1, Jyoti Shukla

  • 1Department of Pathology, Institute of Medical Sciences, Banaras Hindu University, Varanasi - 221005, Uttar Pradesh, India.

Indian Journal of Pathology & Microbiology
|January 13, 2009
PubMed
Summary
This summary is machine-generated.

Hemoglobin E (Hb E) disorders, including Hb E trait and Hb E/beta thalassemia, were identified in two patients presenting with jaundice. Family studies confirmed the genetic basis of these conditions in Northeastern India.

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Area of Science:

  • Hematology
  • Medical Genetics

Background:

  • Hemoglobin E (Hb E) is a variant hemoglobin predominantly found in Northeastern India.
  • Jaundice can be a presenting symptom of hemoglobinopathies like Hb E disorders.

Observation:

  • Two cases of jaundice were evaluated, revealing hemoglobin E disorders.
  • Case 1: A 22-year-old Bengali male with Hb E trait.
  • Case 2: A 5-year-old Hindu boy with Hb E/beta thalassemia.

Findings:

  • Family studies confirmed Hb E trait in parents of Case 1.
  • Family studies revealed Hb E trait in the father and beta-thalassemia minor in the mother of Case 2.
  • The study presents laboratory diagnoses and comparative data for heterozygous Hb E trait, homozygous Hb E disease, and compound heterozygous Hb E/beta-thalassemia.

Implications:

  • Highlights the spectrum of Hemoglobin E disorders in Northeastern India.
  • Emphasizes the importance of family studies in diagnosing hemoglobinopathies.
  • Provides comparative data for understanding different forms of Hb E disorders.