Coexistence of Hemoglobin D and Thalassemia Trait: A Rare Phenomenon with Cardiac Presentation

Area of Science:

• Hematology
• Genetics
• Clinical Medicine

Background:

• Hemoglobin D (HbD) is a common hemoglobin variant in South Asia, arising from a specific amino acid substitution.
• HbD is usually asymptomatic but can cause clinical issues when co-inherited with other hemoglobinopathies like sickle cell disease or thalassemia.
• Co-inheritance of HbD and thalassemia is rare and poorly documented, with limited understanding of its clinical presentation.

Purpose of the Study:

• To report a rare case of coexisting Hemoglobin D and thalassemia trait presenting with severe cardiac symptoms.
• To propose a diagnostic algorithm for efficient hemoglobinopathy evaluation in resource-limited settings.
• To raise awareness about potential severe clinical manifestations of combined hemoglobin variants.

Main Methods:

• Case report detailing a patient from Punjab with coexisting HbD and thalassemia trait.
• Clinical assessment focusing on severe cardiac symptoms potentially linked to chronic anemia.
• Development of a diagnostic algorithm for hemoglobinopathy evaluation.

Main Results:

• A patient with coexisting HbD and thalassemia trait presented with severe cardiac symptoms, suggesting a link to chronic anemia.
• The case underscores the potential for significant clinical impact from rare hemoglobin variant combinations.
• An algorithm was proposed to aid in the diagnosis of hemoglobinopathies.

Conclusions:

• Co-inheritance of Hemoglobin D and thalassemia trait can lead to severe clinical manifestations, including cardiac complications.
• The proposed diagnostic algorithm can aid clinicians in evaluating hemoglobinopathies, especially where genetic testing is not readily available.
• Early and accurate diagnosis of hemoglobinopathies is crucial for managing potential complications and improving patient outcomes.