Co-Inheritance of Beta Delta-Globin Gene (HbYialousa) Mutations in an Iranian.docVIP

International Journal of Clinical Medicine, 2012, 3, 633-636 633 /10.4236/ijcm.2012.37113 Published Online December 2012 (http://www.SciRP.org/journal/ijcm) Co-Inheritance of Beta Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier Atefeh Valaei , Farnaz Eghbalpour , Zahra Kainimoghaddam , Fatemeh Bayat , 1 1 1 1 1 1 1,2* Maryam Taghavi Basmanj , Morteza Karimipoor , Sirous Zeinali 1 2 Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran; Kawsar Human Genetics Research Center, Tehran, Iran. * Email: siruszeinali@ Received September 7 , 2012; revised October 24 , 2012; accepted November 25 , 2012 th th th ABSTRACT Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalas- semia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA and normal HbF level. On the 2 other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA level. Co-presence of mutations in the β-globin and delta-globin genes (point mutations or deletions) usually give 2 normal HbA and elevated HbF level. We report a β-thal carrier with normal level of HbA and increased level of HbF 2 2 who had a point mutation in CD39 on the beta-globin gene and a point mutation in CD27 on the δ-globin gene named Hb-Yialousa. Materials Methods: An individual with low hematological indices, normal HbA and elevated HbF 2 was referred to our center as routine premarital