Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family

Huits, Ralph; Feyens, Anne-Marie; Lonneville, Niels; Peyrassol, Xavier; Adam, Anne‐Sophie; Gulbis, Béatrice; Esbroeck, Marjan Van

doi:10.1136/jclinpath-2021-208009

J Clin Pathol

2022

DOI: 10.1136/jclinpath-2021-208009

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Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family

Ralph Huits

Anne-Marie Feyens

Niels Lonneville

et al.

Abstract: We report on a Pashtun family affected by haemoglobin D-Punjab/β+-thalassemia to increase the awareness of the increasing prevalence of haemoglobinopathies among primary care physicians. We highlight the diagnostic approach of these conditions and the benefits of genetic counselling.

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2024

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Case report—unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan)

Jawed,

Alam,

Fatima

et al. 2024

SAGE Open Medical Case Reports

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Hemoglobin D variations are a group of hemoglobinopathies caused by mutations in the genes that control the synthesis of new globin chains. Hemoglobin D-Punjab is the most prevalent but frequently asymptomatic, it can occasionally cause mild to moderate hemolytic anemia, making diagnosis difficult and raising the risk of misdiagnosis. This article discusses a rare instance of a seventeen-year-old male in Sindh, Pakistan with iron deficiency anemia who was later found to have the Punjab variation of the hemoglobin D. The patient had signs of weakness, exhaustion, and shortness of breath, which were initially alleviated by iron supplementation but eventually became refractory. Hemoglobin electrophoresis demonstrated the distinctive hypochromic, microcytic red blood cell shape, and laboratory tests verified the presence of the Hemoglobin D-Punjab feature. The instance emphasizes how crucial it is to distinguish Hemoglobin D-Punjab from other anemias in order to guarantee proper care. This case underscores the importance of recognizing hemoglobin D-Punjab trait, to provide appropriate genetic counseling and ensure the patient’s well-being. Increased awareness among healthcare professionals regarding the diverse spectrum of hemoglobinopathies is essential for accurate diagnosis and management.

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Case report—unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan)

Jawed,

Alam,

Fatima

et al. 2024

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

show abstract

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Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family

Abstract: We report on a Pashtun family affected by haemoglobin D-Punjab/β+-thalassemia to increase the awareness of the increasing prevalence of haemoglobinopathies among primary care physicians. We highlight the diagnostic approach of these conditions and the benefits of genetic counselling.

Cited by 1 publication

References 16 publications

Case report—unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan)

Case report—unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan)

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