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

DOI: 10.4236/ijcm.2012.37113   PDF   HTML     3,496 Downloads   5,059 Views   Citations


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.

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A. Valaei, F. Eghbalpour, Z. Kainimoghaddam, F. Bayat, M. Basmanj, M. Karimipoor and S. Zeinali, "Co-Inheritance of Beta & Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier," International Journal of Clinical Medicine, Vol. 3 No. 7, 2012, pp. 633-636. doi: 10.4236/ijcm.2012.37113.

Conflicts of Interest

The authors declare no conflicts of interest.


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