
First observation of Hb Tunis [beta124(H2)Pro>Ser] in Turkey
Author(s) -
Aylin Köseler,
Hasan Koyuncu,
Onur Öztürk,
Anzel Bahadır,
Sanem Demirtepe,
Ayfer Atalay,
Erol Ömer Atalay
Publication year - 2010
Publication title -
turkish journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.351
H-Index - 16
ISSN - 1300-7777
DOI - 10.5152/tjh.2010.11
Subject(s) - hemoglobin , hemoglobin variants , medicine , isoelectric focusing , microbiology and biotechnology , chemistry , biology , biochemistry , enzyme
Hb Tunis [beta124(H2)Pro>Ser] was reported from Tunisia in 1988. This hemoglobin variant was detected by isoelectric focusing moving just ahead of Hb A. It cannot be identified by standard hemoglobin electrophoresis due to its similar mobility to Hb A. It has normal stability and oxygen affinity and does not produce any clinical symptoms. Here, we report a heterozygous Hb Tunis [beta124(H2)Pro>Ser] case discovered for the first time in Turkey in a premarital screening program. This hemoglobin variant can be identified with high performance liquid chromatography analysis confirmed with DNA sequencing. We emphasize in our study the importance of an interdisciplinary collaborative study at the provincial basis for the success of the hemoglobinopathy control program.