PMID: 16617736Apr 19, 2006Paper

Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
Ewa ZdebskaJerzy Kościelak

Abstract

The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease. 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. 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]. 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.

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Related Papers

Clinical Proceedings - Children's Hospital of the District of Columbia
J A PAPATHANASIOU
Le Journal médical libanais. The Lebanese medical journal
N Taleb, M Shahid
Le Journal médical libanais. The Lebanese medical journal
N Taleb
La Vie médicale au Canada français
N Taleb
© 2022 Meta ULC. All rights reserved