Hb seal rock [(α2)142 term→Glow, Codon 142 TAA→GAA]: An extended α chain variant associated with Anemia, Microcytosis, and α-Thalassemia-2 (- 3.7 Kb)a

D. Merritt, R. T. Jones, C. Head, S. N. Thibodeau, V. F. Fairbanks, M. H. Steinberg, M. B. Coleman, G. P. Rodgers

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Hb Seal Rock was first reported in a young African-American woman and her 2-year-old daughter (1). It is an extended a chain variant which, like Hb Constant Spring, is present in small quantity and is expressed as an α- Hb H disease was observed in the index case with Hb Pakse. In that case, however, the genotype of the proband was α(Pakse)α/- -, inasmuch as she had the SEA α-thal-1 deletion on one chromosome 16 and the α2-Pakse mutation on the other. In another family in which Hb Pakse, Hb Constant Spring, and the -3.7 kb α-thal-2 gene occurred, it was observed that the combinations α(Pakse)α/α and α(Pakse)α/α(-3.7 kb) were both associated with mild anemia and only slight microcytosis (27). The expected gradation in severity of anemia and microcytosis is well exemplified in these three complementary studies (Table IV).

Original languageEnglish (US)
Pages (from-to)331-344
Number of pages14
JournalHemoglobin
Volume21
Issue number4
DOIs
StatePublished - 1997

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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