[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia].
The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease.


METHODS
600 patients (270 male and 330 female) aged 2-85 years with microcytosis and no evidence of iron deficiency were examined for beta-thalassemia. Hemoglobin A2 and hemoglobin F and bilirubin were evaluated. Patients with elevated A2 hemoglobin concentration were examined for 8 common Mediterranean mutations.


RESULTS
Hemoglobin A2 was increased in 106 patients. In 48 patients there was also an elevation of hemoglobin F and in 42 - of serum bilirubin. 7 different mutations were detected in 46 heterozygous patients (numbers of patients with a particular mutation are in square brackPis): IVS1-6(T>C) [15], IVS2-745(C>G) [14], IVS2-1(G>A) [10], IVS1-1(G>A) [2], CD6-A [2], CD39(C>T) [2], IVS1-110(G>A) [1].


CONCLUSIONS
Frequencies of individual mutations in Poland were different from those encountered in Mediterranean and some Central European countries. Our data indicate that fl-thalassemia in Poland is not a rare disease and should be considered in differential diagnosis of hypochromic anemia.
Zdebska
Ewa
E
Instytut Hematologii i Transfuzjologii w Warszawie, Zakład Biochemii. ezdebska@ihit.waw.pl
Krawcewicz
Angelika
A
Adamowicz-Salach
Anna
A
Jackowska
Teresa
T
Tejza
Barbara
B
Strojny
Wojciech
W
Kuliszkiewicz-Janus
Maria
M
Mokras
Urszula
U
Kościelak
Jerzy
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001663:Bilirubin / Q000097:blood; D002391:Catchment Area, Health; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism; D006801:Humans; D008297:Male; D019083:Mediterranean Region; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D017086:beta-Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*
D005319:Fetal Hemoglobin; D001663:Bilirubin