Unal Sule, Chui David H K, Gumruk Fatma
Center for Inherited Bone Marrow Failure Syndromes, Hacettepe University , Ankara , Turkey.
Hemoglobin. 2015;39(4):287-9. doi: 10.3109/03630269.2015.1041036. Epub 2015 May 15.
A 16-year-old boy who was diagnosed to have sickle cell anemia was referred to our center. The parental consanguinity, growth retardation and dysmorphic features prompted a search for possible Fanconi's Anemia (FA). The diepoxybutane (DEB) test was positive, confirming FA. The interaction of both diseases might account for his relatively mild phenotype in terms of both sickle cell anemia (or Hb S, HBB: c.20A > T) and FA. The high Hb F level that might be related to concomitant FA, may have caused a milder phenotype of sickle cell anemia, whereas nitric oxide (NO) depletion as a consequence of sickle cell anemia, may have caused a delay in the bone marrow failure of FA.
一名被诊断患有镰状细胞贫血的16岁男孩被转诊至我们中心。父母近亲结婚、生长发育迟缓及畸形特征促使我们寻找可能的范可尼贫血（FA）。二环氧丁烷（DEB）试验呈阳性，确诊为FA。两种疾病的相互作用可能是其镰状细胞贫血（或Hb S，HBB：c.20A＞T）和FA相对较轻表型的原因。可能与合并FA相关的高胎儿血红蛋白（Hb F）水平，可能导致了镰状细胞贫血较轻的表型，而镰状细胞贫血导致的一氧化氮（NO）消耗，可能导致了FA骨髓衰竭的延迟。
