Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb)

Hemoglobin. 1997 Jul;21(4):331-44. doi: 10.3109/03630269709000666.

Abstract

Hb Seal Rock was first reported in a young African-American women and her 2-year-old daughter (1). It is an extended alpha chain variant which, like Hb Constant Spring, is present in small quantity and is expressed as an alpha-thalassemia. The mutation, TAA-->GAA affects codon 142 of the alpha 2 gene. In this family, the index case was a compound heterozygote for Hb Seal Rock trait and for alpha-thalassemia trait (-3.7 kb). Her hematologic expression was similar to mild Hb H disease, presumably because the Seal Rock mutation affects the alpha 2 gene that is normally responsible for approximately 70% of alpha-globin synthesis. Her daughter had only Hb Seal Rock trait, but was phenotypically alpha-thalassemia-2 trait due to the expression of the Seal Rock mutation on one of her alpha 2-globin genes, the other three alpha-globin genes being unaffected.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Anemia / genetics*
  • Codon / genetics
  • Female
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • alpha-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin Seal Rock