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Analysis of α-thalassemia mutations in patients diagnosed at the Institute of Hematology and Transfusion Medicine
Affiliations- Zakład Immunologii Hematologicznej i Transfuzjologicznej Instytutu Hematologii i Transfuzjologii, kierownik: prof. dr hab. Ewa Brojer, Warszawa, Polska
- Poradnia dla Chorych na Wrodzone Niedokrwistości Instytutu Hematologii i Transfuzjologii, kierownik: dr n. med. Ewa Mendek-Czajkowska, Warszawa, Polska
- Poradnia Hematologiczna Instytutu Hematologii i Transfuzjologii, kierownik: lek. Monika Dąbrowska, Warszawa, Polska
- Poradnia Hematologiczna dla Kobiet w Ciąży Instytutu Hematologii i Transfuzjologii, kierownik: dr n. med. Izabella Kopeć, Warszawa, Polska
- II Klinika Ginekologii i Położnictwa Centrum Medycznego Kształcenia Podyplomowego, Kierownik: prof. dr hab. med. Romuald Dębski, Warszawa, Polska
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Abstract
Background
Alpha-thalassemia is genetically transmitted hemolytic anemia resulting from disturbance of the globins chain synthesis. Alpha-thalassemia is caused most frequently by deletions and less commonly by nondeletional defects.
Aim
To introduce the molecular methods for routine identifications of alpha-thalassemia mutations and to study the characteristics of these mutations in Poland.
Methods
Blood sample of 155 patients with normal or reduced HbA2 values was obtained for blood counting. All samples underwent gap-PCR to screen for the seven common α-thal deletions and MLPA analysis. The DNA of 21 patients in which deletions were not detected has been directly sequenced.
Results
We detected mutations in the alpha-globin gene in 72 of 155 patients studied. 55 out of 72 cases showed most common thalassemia deletions, as the following: a single gene deletion (α3.7 and α4.2) and both genes deletion (FIL, SEA, MED I, and α20.5). Owing to the use of MLPA technique, we found nontypical deletions in another 12 patients and multiplication of the alpha-globin genes in further 4 cases. We also identified a patient with a point mutation HBA2: c.300 + 2T>A by DNA sequencing.
Conclusions
Molecular analysis of the alpha-globin cluster is required for a correct diagnosis in patients with normal or reduced level of HbA2.
The results of the study show that due to the progressive migration of the population and globalization, thalassemia must be included in the differential diagnosis of anemia in Poland.
Abstract
Background
Alpha-thalassemia is genetically transmitted hemolytic anemia resulting from disturbance of the globins chain synthesis. Alpha-thalassemia is caused most frequently by deletions and less commonly by nondeletional defects.
Aim
To introduce the molecular methods for routine identifications of alpha-thalassemia mutations and to study the characteristics of these mutations in Poland.
Methods
Blood sample of 155 patients with normal or reduced HbA2 values was obtained for blood counting. All samples underwent gap-PCR to screen for the seven common α-thal deletions and MLPA analysis. The DNA of 21 patients in which deletions were not detected has been directly sequenced.
Results
We detected mutations in the alpha-globin gene in 72 of 155 patients studied. 55 out of 72 cases showed most common thalassemia deletions, as the following: a single gene deletion (α3.7 and α4.2) and both genes deletion (FIL, SEA, MED I, and α20.5). Owing to the use of MLPA technique, we found nontypical deletions in another 12 patients and multiplication of the alpha-globin genes in further 4 cases. We also identified a patient with a point mutation HBA2: c.300 + 2T>A by DNA sequencing.
Conclusions
Molecular analysis of the alpha-globin cluster is required for a correct diagnosis in patients with normal or reduced level of HbA2.
The results of the study show that due to the progressive migration of the population and globalization, thalassemia must be included in the differential diagnosis of anemia in Poland.
Keywords
Alpha-thalassemia; Microcytosis; gap-PCR; MLPA; Alpha-globin; Deletions
About this articleTitle
Analysis of α-thalassemia mutations in patients diagnosed at the Institute of Hematology and Transfusion Medicine
Journal
Issue
Pages
248-253
Published online
2016-10-01
Page views
115
Article views/downloads
502
DOI
10.1016/j.achaem.2016.10.002
Bibliographic record
Acta Haematol Pol 2016;47(4):248-253.
Keywords
Alpha-thalassemia
Microcytosis
gap-PCR
MLPA
Alpha-globin
Deletions
Authors
Edyta Klimczak-Jajor
Joanna Skulimowska
Paweł Turowski
Hanna Pyl
Małgorzata Uhrynowska
Katarzyna Guz
Ewa Mendek-Czajkowska
Anna Ejduk
Izabella Kopeć
Marzena Dębska
Ewa Brojer