title: Phenotypic variability in a chinese family with nondeletional Hb H-Hb Quong Sze disease.
abstract: 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 severe clinical syndrome as patients with identical genotypes do not necessarily show the same severity. In this report, we described two nondeletional Hb H-Hb Quong Sze [α125(H8)Leu→Pro, CTG>CCG (α2)] disease individuals in a family who presented with phenotypic variability.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangdong, People's Republic of China.
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Li-He
authors.initials: LH
authors.lastname: Chen
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D002681:China; D005192:Family Health; D005260:Female; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C045396:hemoglobin Quong Sze; D006447:Hemoglobin H