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D. A. Koolen, W. M. Nillesen, M. H. A. Versteeg, G. F. M. Merkx, N. V. A. M. Knoers, M. Kets, S. Vermeer, C. M. A. van Ravenswaaij, C. G. de Kavel, H. G. Brunner, D. Smeets, B. B. A. de Vries and E. A. Sistermans, “Screening for Subtelomeric Rearrangements in 210 Patients with Unexplained Mental Retardation Using Multiplex Ligation Dependent Probe Amplification (MLPA),” Journal of Medical Genetics, Vol. 41, No. 12, 2004, pp. 892-899. doi:10.1136/jmg.2004.023671

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• TITLE: Co-Inheritance of Beta & Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier

  AUTHORS: Atefeh Valaei, Farnaz Eghbalpour, Zahra Kainimoghaddam, Fatemeh Bayat, Maryam Taghavi Basmanj, Morteza Karimipoor, Sirous Zeinali

  KEYWORDS: δ-Globin Gene; β-Thalassemia; HbYialousa; β-Globin Gene; CD39

  JOURNAL NAME: International Journal of Clinical Medicine, Vol.3 No.7, December 31, 2012

  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 HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have similar CBC parameters to that of β-thalassemia with normal HbA2 level. Co-presence of mutations in the β-globin and delta-globin genes (point mutations or deletions) usually give normal HbA2 and elevated HbF level. We report a β-thal carrier with normal level of HbA2 and increased level of HbF 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 HbA2 and elevated HbF was referred to our center as routine premarital screening program. Mutations in the β-globin and δ-globin genes were screened using ARMS and sequencing methods. Results: The mutation in β- and δ-globin genes were identified as CD39 and CD27 (HbYialousa) respectively. No point mutation or deletion in α-globin gene was identified. Discussion: We showed that normal HBA2 with elevated HbF level is due to co-inheritance of delta-globin gene mutation with mutation in the β-globin gene. When screening for β-thalassemia, one has to either rule out presence of α-globin gene mutation of mutation in the delta-globin gene.