A severe alpha thalassemia case compound heterozygous for Hb Adana in alpha1 gene and 20.5 kb double gene deletion.
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.
Durmaz
Asude Alpman
AA
Department of Medical Genetics, Subdivision of Genetics and Teratology, Ege University Medical Faculty, Izmir, Turkey. asudealpman@gmail.com
Akin
Haluk
H
Ekmekci
Aslihan Yilmaz
AY
Onay
Huseyin
H
Durmaz
Burak
B
Cogulu
Ozgur
O
Aydinok
Yesim
Y
Ozkinay
Ferda
F
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
D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana