title: 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.affiliation: Department of Medical Genetics, Subdivision of Genetics and Teratology, Ege University Medical Faculty, Izmir, Turkey. asudealpman@gmail.com
authors.forename: Asude Alpman
authors.initials: AA
authors.lastname: Durmaz
authors.forename: Haluk
authors.initials: H
authors.lastname: Akin
authors.forename: Aslihan Yilmaz
authors.initials: AY
authors.lastname: Ekmekci
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Burak
authors.initials: B
authors.lastname: Durmaz
authors.forename: Ozgur
authors.initials: O
authors.lastname: Cogulu
authors.forename: Yesim
authors.initials: Y
authors.lastname: Aydinok
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
mesh_terms: D000328:Adult; D002648:Child; D017353:Gene Deletion; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D012720:Severity of Illness Index; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana