First observation of Hb Tunis [beta124(H2) Pro > Ser] in Turkey


Koseler A., KOYUNCU H., Ozturk O. , Bahadir A., Demirtepe S., Atalay A., ...Daha Fazla

TURKISH JOURNAL OF HEMATOLOGY, cilt.27, ss.120-122, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27 Konu: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.5152/tjh.2010.11
  • Dergi Adı: TURKISH JOURNAL OF HEMATOLOGY
  • Sayfa Sayıları: ss.120-122

Özet

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. (Turk J Hematol 2010; 27: 120-2)