Article
Phenotypic variability in a chinese family with nondeletional Hb H-Hb Quong Sze disease.
Hemoglobin - 1 Jan 2011
Li Jian, Liao Can, Zhou Jian-Ying, Xie Xing-Mei, Li Ru, Chen Li-He, Li Dong-Zhi
Abstract excerpt
Hb H (β4) disease is the most common form of thalassemia intermedia. Two main types of Hb H disease, deletional and nondeletional, are characterized. Patients with nondeletional Hb H disease are usually more anemic with organomegaly; some may require regular blood transfusions and even be as severely affected as Hb H hydrops fetalis. However, there is no clear genotype-phenotype correlation associated with this...
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