[Beta-thalassemia and glucose-6-phosphate dehydrogenase deficiency].

Klinicheskaia laboratornaia diagnostika

PubMedID: 9044721

Troitskaia OV, Ermil'chenko GV, Levitskaia SV, Varzieva LK. [Beta-thalassemia and glucose-6-phosphate dehydrogenase deficiency]. Klin Lab Diagn. 1997;(6):17-24.
Twenty subjects--patients with anemia and their close relatives representing 7 families, were tested for thalassemia. Heterozygotic beta-thalassemia was detected in 17 cases. The national composition of this patient population was as follows: 7 Pathans (Afghanistan), 1 family; 2 Armenians (Georgia), mother and son; 2 Tajiks, sibs; 2 patients of mixed Russian-Ukrainian-Polish-Azerbaijan origin, mother and son; 1 Russian-Arab child and his Arab father (Syria); 1 Uzbek woman and 1 Russian child. The mean content of Hb in the blood for patients with heterozygotic beta-thalassemia is 110 +/- 3.8 g/liter, that of HbA2 fraction 4.8 +/- 0.26% and of HbF fraction 2.6 +/- 0.39%. Clinical manifestations of the disease varied, being more grave in children than in adults. In an Armenian family from Batumi thalassemia minor was diagnosed in the mother and son, whereas in the father and other son a periodic disease was revealed. In a family of 7 members from Afghanistan thalassemia minor was found in 4 representing the paternal line, minimal thalassemia was suspected in 3, and a deficiency of glucose-6-phosphate dehydrogenase in red blood cells was revealed in 5: in the mother and 4 children. No increase of methemoglobin level was revealed in either of the examinees.