The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 1
Recessive congenital methemoglobinemia in immediate generations
Deniz Aslan 1 ,Gülsan Türköz-Sucak 2 ,Melanie Joan Percy 3
1 Division of Hematology, Department of Pediatrics, Gazi University, Faculty of Medicine, Ankara, Turkey
2 Division of Hematology, Department of Internal Medicine, Gazi University, Faculty of Medicine, Ankara, Turkey
3 Centre for Cancer Research and Cell Biology (CCRCB), Queen’s University Belfast, Belfast, United Kingdom
DOI : 10.24953/turkjped.2016.01.019 We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population. Keywords : recessive congenital methemoglobinemia, immediate generations, Arg50Gln mutation, Turkish patient
Copyright © 2016 turkishjournalpediatrics.org