First Case of a Compound Heterozygosity for Two Nondeletional α-Thalassemia mutations, Hb Constant Spring and Hb Quong Sze.

Abstract

Nondeletional α-thalassemia (α-thal) is the result of point mutations in critical regions of the α-globin genes, affecting mRNA processing, mRNA translation, or α-globin stability. Hb Constant Spring (Hb CS, HBA2: c.427T > C) is the most common nondeletional α-thal that results from a nucleotide substitution at the termination codon of the α2-globin gene. Hb Quong Sze (Hb QS, HBA2: c.377T > C) is another nondeletional α-thal in South China with the missense mutation at codon 125 of the α2-globin gene making this hemoglobin (Hb) variant highly unstable. Although homozygosity for Hb CS (α(CS)α/α(CS)α) or Hb QS (α(QS)α/α(QS)α) has been reported, clinical pictures vary from severe hemolysis that developed early in life to only mild anemia, no clinical phenotypic data of compound heterozygosity for Hb CS/Hb QS (α(CS)α/α(QS)α) has been described. In this report we describe an adult case with such a compound heterozygosity who presented with a mild α-thal.

• Authors: Jian-Ying Zhou, Jin-Mei Yan, Jian Li, Dong-Zhi Li
• Journal: Hemoglobin (Hemoglobin) Vol. 40 Issue 3 Pg. 210-2 (Jun 2016) ISSN: 1532-432X [Electronic] England
• PMID: 26956449 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Quong Sze
• Hemoglobin Constant Spring

Topics

• Adult
• Anemia (genetics)
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Mutation (genetics)
• Phenotype
• alpha-Thalassemia (genetics)