Phenotypic variability in a chinese family with nondeletional Hb H-Hb Quong Sze disease

Hemoglobin. 2011;35(4):430-3. doi: 10.3109/03630269.2011.592554.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • China
  • Family Health
  • Female
  • Genotype
  • Hemoglobin H / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / genetics
  • Male
  • Mutation, Missense*
  • Phenotype
  • Pregnancy
  • Syndrome
  • Ultrasonography, Prenatal
  • alpha-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • alpha-Globins
  • hemoglobin Quong Sze
  • Hemoglobin H