A severe alpha thalassemia case compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion.

Abstract

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 alpha genes was performed for the proband and the parents which revealed that the case was compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion. The father was found to be heterozygous for Hb Adana alpha1 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 nondeletional mutation underlying Hb Adana, which is rarely seen in alpha1 gene, and illustrates the distinctive phenotypes of both the deletional and nondeletional forms of hemoglobin H disease within the same family.

• Authors: Asude Alpman Durmaz, Haluk Akin, Aslihan Yilmaz Ekmekci, Huseyin Onay, Burak Durmaz, Ozgur Cogulu, Yesim Aydinok, Ferda Ozkinay
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 31 Issue 8 Pg. 592-4 (Aug 2009) ISSN: 1536-3678 [Electronic] United States
• PMID: 19636270 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Adana

Topics

• Adult
• Child
• Gene Deletion
• Hemoglobins, Abnormal (genetics)
• Humans
• Male
• Phenotype
• Severity of Illness Index
• alpha-Thalassemia (genetics, pathology)