一名患有ALAS2 S568G突变的马来男孩的X连锁铁粒幼细胞贫血
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.
作者信息
Susanto Thomas A K, Bhattacharyya Rajat
机构信息
*Department of Paediatric †Department of Paediatrics Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore.
出版信息
J Pediatr Hematol Oncol. 2017 Jul;39(5):408-409. doi: 10.1097/MPH.0000000000000814.
PMID:28644307
Abstract
Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.
摘要
在一名16岁患有贫血的马来男孩的外周血涂片上发现了二态性，该男孩最终被诊断为X连锁铁粒幼细胞贫血。在ALAS2基因中鉴定出S568G突变，这在马来族人群中此前尚未有过描述。
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