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Vol 4, No 3 (2011)
ORIGINAL PAPERS
Published online: 2011-09-23
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Modern diagnosis of thalassemia in children — own experience

Katarzyna Albrecht, Anna Adamowicz-Salach, Alicja Siwicka, Beata Burzyńska, Michał Matysiak
Journal of Transfusion Medicine 2011;4(3):105-114.

open access

Vol 4, No 3 (2011)
ORIGINAL PAPERS
Published online: 2011-09-23

Abstract

Background: There has been a consensus that thalassemias are typical of the Mediterranean region, North Africa, and Far and Middle Asia. However, recent progress in diagnostic methods has led to the detection of thalassemia in Poland. Routinely employed diagnostics often turn out insufficient to diagnose thalassemia, substantiating the need to use modern molecular biological techniques. This paper aimed at assessing the utility of some so far infrequently employed molecular genetic tests for facilitating diagnosis of rare non-typical cases of thalassemia in Polish children. Against this background, the significance of hematological parameters in the differential diagnosis of microcytic anemias was evaluated. Based on the above, an attempt has been made to establish an optimal algorithm for diagnosis of suspected thalassemia.
Material and methods: The study comprised a group of 52 children (31 boys and 21 girls) at the age of 1–15 years, who were subjected to long-term treatment with iron preparation due to microcytic anemia, with no subsequent improvement. A permission of the local Bioethical Committee was obtained for this study. After taking the history, basic hematologic tests were performed. The tests were then extended to electrophoretic separation of hemoglobins, determination of HgbA2 and HgbF. In three cases erythrocyte enzymes were tested, and in two examination towards hereditary spherocytosis was carried out. Finally, genetic tests were performed.
Results: Of the 52 children examined, 29 cases were diagnosed as b-thalassemia minor. Routine diagnostic tests (blood morphology, serum iron and ferritin, hemoglobin elctrophoresis, HgbA2 and HgbF assay) were enough to ascertain diagnosis in 28 children. Diagnosis of 1 case was only possible on the basis of genetic tests. Alpha-thalassemia minor was diagnosed in 6 children, and the diagnosis was only possible due to genetic tests. No diagnosis was ascertained in 17 children. Within this group, in 6 children only mutation in the g globin gene promoter region (Xmn1) was held responsible for increased HgbF.
Conclusions: Considering numerous false positive and false negative results, mathematical indexes as the initial screening in microcytic anemia seem not to have significant impact on differential diagnosis. Genetic tests play essential role in diagnosing thalassemia although they are not always effective. Changes such as erythrocytosis, microcytosis, hypochromy as well as the presence of shield erythrocytes in peripheral blood smears indicating to do examinations. We presented the practical diagnostic algorithm in microcytosis.
J. Transf. Med. 2011; 3: 105–114

Abstract

Background: There has been a consensus that thalassemias are typical of the Mediterranean region, North Africa, and Far and Middle Asia. However, recent progress in diagnostic methods has led to the detection of thalassemia in Poland. Routinely employed diagnostics often turn out insufficient to diagnose thalassemia, substantiating the need to use modern molecular biological techniques. This paper aimed at assessing the utility of some so far infrequently employed molecular genetic tests for facilitating diagnosis of rare non-typical cases of thalassemia in Polish children. Against this background, the significance of hematological parameters in the differential diagnosis of microcytic anemias was evaluated. Based on the above, an attempt has been made to establish an optimal algorithm for diagnosis of suspected thalassemia.
Material and methods: The study comprised a group of 52 children (31 boys and 21 girls) at the age of 1–15 years, who were subjected to long-term treatment with iron preparation due to microcytic anemia, with no subsequent improvement. A permission of the local Bioethical Committee was obtained for this study. After taking the history, basic hematologic tests were performed. The tests were then extended to electrophoretic separation of hemoglobins, determination of HgbA2 and HgbF. In three cases erythrocyte enzymes were tested, and in two examination towards hereditary spherocytosis was carried out. Finally, genetic tests were performed.
Results: Of the 52 children examined, 29 cases were diagnosed as b-thalassemia minor. Routine diagnostic tests (blood morphology, serum iron and ferritin, hemoglobin elctrophoresis, HgbA2 and HgbF assay) were enough to ascertain diagnosis in 28 children. Diagnosis of 1 case was only possible on the basis of genetic tests. Alpha-thalassemia minor was diagnosed in 6 children, and the diagnosis was only possible due to genetic tests. No diagnosis was ascertained in 17 children. Within this group, in 6 children only mutation in the g globin gene promoter region (Xmn1) was held responsible for increased HgbF.
Conclusions: Considering numerous false positive and false negative results, mathematical indexes as the initial screening in microcytic anemia seem not to have significant impact on differential diagnosis. Genetic tests play essential role in diagnosing thalassemia although they are not always effective. Changes such as erythrocytosis, microcytosis, hypochromy as well as the presence of shield erythrocytes in peripheral blood smears indicating to do examinations. We presented the practical diagnostic algorithm in microcytosis.
J. Transf. Med. 2011; 3: 105–114
Get Citation

Keywords

thalassemia; children; diagnosis; molecular diagnosis

About this article
Title

Modern diagnosis of thalassemia in children — own experience

Journal

Journal of Transfusion Medicine

Issue

Vol 4, No 3 (2011)

Pages

105-114

Published online

2011-09-23

Bibliographic record

Journal of Transfusion Medicine 2011;4(3):105-114.

Keywords

thalassemia
children
diagnosis
molecular diagnosis

Authors

Katarzyna Albrecht
Anna Adamowicz-Salach
Alicja Siwicka
Beata Burzyńska
Michał Matysiak

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