# Unveiling Rare Hemoglobinopathies: Hematologic Characterization of Double Heterozygous Hb D and Hb E With Beta-Thalassemia—A Case Report

## TL;DR

A rare case of double heterozygous hemoglobinopathy involving Hb D, Hb E, and beta-thalassemia is reported in a child from Pakistan, highlighting the need for better screening and counseling.

## Contribution

This case report identifies a rare combination of hemoglobin variants and emphasizes the importance of targeted screening in high-risk regions.

## Key findings

- The child exhibited severe anemia and a dimorphic blood picture due to compound heterozygosity for Hb D and Hb E.
- The father was a compound heterozygote for Hb E and beta-thalassemia, while the mother was heterozygous for Hb D.
- The case underscores the need for improved genetic screening and counseling in regions with high hemoglobinopathy prevalence.

## Abstract

Background: Hemoglobinopathies are genetic disorders of hemoglobin, with over 700 variants. Common types include beta-thalassemia, Hb S, Hb E, Hb D, and Hb C, and their prevalence is increasing, especially in developing regions of sub-Saharan Africa and Asia. Pakistan, located in the “thalassemia belt,” has a high rate of these disorders, with beta-thalassemia being the most common. Genetic combinations, including compound heterozygosity, can lead to unpredictable and severe clinical outcomes. Understanding such rare presentations can aid in more accurate diagnosis, better management strategies, and a deeper insight into the genetic diversity of hemoglobinopathies. It also emphasizes the importance of genetic screening in populations with high hemoglobinopathy prevalence, such as Pakistan, to improve patient outcomes.

Case Presentation: A one-year-old girl from consanguineous parents in Multan presented with fatigue, feeding difficulties, and severe growth retardation. She had a history of severe anemia requiring a transfusion at 6 months. Examination revealed pallor and mild hepatosplenomegaly. Hemoglobin analysis showed severe anemia (Hb 5.3 g/dL) and a dimorphic blood picture, with electrophoresis indicating compound heterozygosity for Hb D and Hb E, predominated by Hb D. Her father was a compound heterozygote for Hb E and beta-thalassemia. However, the mother was heterozygous for Hb D. Genetic profiling was not completed due to resource limitations, but the family was counseled on consanguinity risks.

Conclusion: Given the rising prevalence of uncommon severe hemoglobinopathies in Pakistan and existing resource limitations, targeted screening in high-risk districts and enhanced patient counseling are essential to mitigate the disease burden and improve diagnostic and management strategies.