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DOI 10.1177/2050313x241272516

Медицинская библиотека · SAGE open medical case reports · 2024

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

Jawed Inshal, Alam Mohammad Omer, Fatima Fasiha Bakhtawar, Johar Syeda Alisha, Shah Syed Adil Mir

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Аннотация

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.

Для цитирования: Jawed Inshal, Alam Mohammad Omer, Fatima Fasiha Bakhtawar, Johar Syeda Alisha, Shah Syed Adil Mir. Case report-unveiling a case of hemoglobin D-Punjab variant with iron deficiency anemia in Sindh (Pakistan).. SAGE open medical case reports. 2024. DOI: 10.1177/2050313x241272516.
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