IDENTIFICATION OF TWO RARE beta-GLOBIN GENE MUTATIONS IN A PATIENT WITH beta-THALASSEMIA INTERMEDIA FROM AZERBAIJAN

Asadov, Chingiz; Abdulalimov, Eldar; Mammadova, Tahira; Qafarova, Surmaya; Guliyeva, Yegana; TULİ, ABDULLAH; Curuk, M.

doi:10.3109/03630269.2013.774283

IDENTIFICATION OF TWO RARE beta-GLOBIN GENE MUTATIONS IN A PATIENT WITH beta-THALASSEMIA INTERMEDIA FROM AZERBAIJAN

Asadov C. D., Abdulalimov E. R., Mammadova T. A., Qafarova S. N., Guliyeva Y. J., TULİ A., ...Daha Fazla

HEMOGLOBIN, cilt.37, sa.3, ss.291-296, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 37 Sayı: 3
Basım Tarihi: 2013
Doi Numarası: 10.3109/03630269.2013.774283
Dergi Adı: HEMOGLOBIN
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.291-296
Çukurova Üniversitesi Adresli: Evet

Özet

beta-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare beta-thalassemia (beta-thal) mutations, IVS-I-130 (G>C) and codon 37 (TGG>TGA).