A Severe alpha Thalassemia Case Compound Heterozygous for Hb Adana in alpha(1) Gene and 20.5 kb Double Gene Deletion

Durmaz A. , AKIN H. , EKMEKCI A. Y. , ONAY H. , DURMAZ B. , Cogulu O. , ...More

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.31, no.8, pp.592-594, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 8
  • Publication Date: 2009
  • Doi Number: 10.1097/mph.0b013e3181a71855
  • Page Numbers: pp.592-594


We report a 6-year-old boy diagnosed as transfusion dependent chronic nonspherocytic hemolytic anemia since 40 days old. Hemoglobin H inclusions were detected with brilliant cresyl blue preparation. His parents were found to be normal on physical examination. His mother had hemoglobin level of 9.34 g/dL, accompanied by typical thalassemic changes of the red cells, and inclusion bodies were also detected with brilliant cresyl blue staining. His father had normal hemoglobin level and borderline red cell indices. Mutation analysis using strip assay capable of detecting 22 mutations within the a genes was performed for the proband and the parents which revealed that the case was compound heterozygous for Hb Adana in alpha(1) gene and 20.5 kb double gene deletion. The father was found to be heterozygous for Hb Adana alpha(1) gene whereas the mother was found to be compound heterozygous for 20.5 kb double gene deletion and 3.7 kb single gene deletion. It is well known that non deletional forms of HbH disease are more severe than the deletional forms. This case represents another example of the non deletional mutation underlying Hb Adana, which is rarely seen in alpha(1) gene, and illustrates the distinctive phenotypes of both the deletional and nondeletional forms of hemoglobin H disease within the same family.