[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia]. 2006

Ewa Zdebska, and Angelika Krawcewicz, and Anna Adamowicz-Salach, and Teresa Jackowska, and Barbara Tejza, and Wojciech Strojny, and Maria Kuliszkiewicz-Janus, and Urszula Mokras, and Jerzy Kościelak
Instytut Hematologii i Transfuzjologii w Warszawie, Zakład Biochemii. ezdebska@ihit.waw.pl

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.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D011044 Poland A country in central Europe, east of Germany. The capital is Warsaw. Polish People's Republic,Republic of Poland
D002391 Catchment Area, Health A geographic area defined and served by a health program or institution. Health Service Area,Health Catchment Area,Service Area, Health,Area, Health Catchment,Area, Health Service,Areas, Health Catchment,Areas, Health Service,Catchment Areas, Health,Health Catchment Areas,Health Service Areas,Service Areas, Health
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005260 Female Females
D005319 Fetal Hemoglobin The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA. Hemoglobin F,Hemoglobin, Fetal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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