Molecular characterization of Hb D-Ibadan [β87(F3)Thr→Lys] in combination with Hb S [β6(A3)Glu→Val] and with β+-thalassemia: Report of two cases

Rupa Redding-Lallinger, Gaye Tankut, Leslie Holley, Frances Wright, Abdullah Kutlar, Ferdane Kutlar

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Hb D-lbadan [β87(F3)Thr→Lys] is a common variant in the Nigerian population, which has been reported in association with Hb S [β6(A3)Glu→Val] and with β-thalassemia. Unlike the Hb S/Hb D-Los Angeles [β121(GH4)Glu→Gln] combination, compound heterozygosity for Hb D-Ibadan and Hb S does not result in a sickling disorder. We report the first case of a combination of Hb D-Ibadan with β+-thalassemia, and the first observation of Hb S/Hb D-Ibadan in the African-American population. In both cases, the characterization of Hb D-Ibadan was achieved by sequencing of the genomic DNA. Although protein based methods such as isoelectrofocusing and high performance liquid chromatography may suggest that the "D-like" variant is different from Hb D-Los Angeles, the definitive identification of the variant by structural analysis or molecular genetic methods should be undertaken, particularly in newborn screening programs when the variant is found in combination with Hb S.

Original languageEnglish (US)
Pages (from-to)129-134
Number of pages6
JournalHemoglobin
Volume26
Issue number2
DOIs
StatePublished - Jul 27 2002

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Molecular characterization of Hb D-Ibadan [β87(F3)Thr→Lys] in combination with Hb S [β6(A3)Glu→Val] and with β<sup>+</sup>-thalassemia: Report of two cases'. Together they form a unique fingerprint.

  • Cite this