Last update:
02-Mar-2020

Hemoglobin O-Arab in the homozygous state, which in Greece appears primarily in the Pomak population of Thrace, is usually manifest as a mild hypochromic anemia. Its co-existence with β-thalassemia or sickle cell disease results in significant heterogeneity in the clinical presentation, and, in some cases, in significant morbidity. The clinical case of a 37-year-old male Pomak with compound heterozygosity for β-thalassemia and hemoglobin O-Arab and a phenotype of mild β-thalassemia intermedia is presented here. The diagnosis was made following investigation of intrauterine growth restriction (IUGR) during his wife's pregnancy, which revealed as a random finding that the fetus was O-Arab heterozygote.

Key words: Anemia, β-thalassemia, Hemoglobin O-Arab, Hemoglobinopathies, Sickle cell disease.