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Arch Hellen Med, 37(2), March-April 2020, 251-253


Compound heterozygosity for β-thalassemia and hemoglobin O-Arab

K. Manganas,1 S. Delicou,1 A. Xydaki,1 Z. Pallantza2
1Department of Thalassemia and Sickle Cell Disease, "Hippokratio" General Hospital, Athens,
2Department of Laboratory Hematology, "Hippokratio" General Hospital, Athens, Greece

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.

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