Hemoglobin D and Coinheritance with Hb S, β-thalassemia

Authors : Zeynep Öztürk, Osman Alphan Küpesiz, Elif Güler, Funda Tayfun Küpesiz

Pages : 443-449

Doi:10.53394/akd.1326831

View : 45 | Download : 102

Publication Date : 2024-09-19

Article Type : Research Paper

Abstract :Objective: Hb D-Punjab (also known as D-Los Angeles) is a recessively inherited variant of hemoglobin. It is one of the most common hemoglobin variants worldwide. In this study, we aimed to evaluate the hematological features of our homozygous and heterozygous Hb D patients and patients with compound heterozygosity for Hb D and other hemoglobinopathies in terms of clinical and laboratory findings. Methods: In this study, cases with Hb D-Punjab have been identified in both the heterozygous and homozygous states, as well as coinheritance with Hb S or β-thalassemia. We presented the clinical and laboratory characteristics of 18 cases (Hb D/D (n=2), Hb D/β-thalassemia (n=3), and Hb S/D (n=3) and Hb D traits (n=10)). Results: As a result of the study, it was observed that Hb D was asymptomatic in both heterozygous and homozygous forms. Hb D/β thalassemia cases showed mild microcytic and hypochromic anemia, but they were clinically normal. Compound heterozygosity for Hb S/D showed moderate hemolytic anemia, but a severe clinical picture with painful crises, just like sickle cell patients. Conclusion: Hemoglobin D-Punjab, which is asymptomatic even in homozygous conditions, can cause a variety of clinical pictures from mild to severe when inherited in combination with other hemoglobinopathies.
Keywords : hemoglobin D, hemoglobin S, beta talasemi, hemoglobinopati