Potential pitfalls in the diagnosis of Hb Handsworth in areas with high prevalence of HbS

S. Al Zadjali, A. Z. Al-Riyami, D. Gravell, H. Al Haddabi, M. Al Rawahi, K. Al Falahi, S. Daar

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Hb Handsworth is a rare α-globin structural variant caused by a missense mutation either on the α2 or α1-globin gene (HBA2 or HBA1: c.55G>C, p.Gly18Arg). This variant might be erroneously diagnosed as HbS unless secondary confirmative tests are carried out. We encountered a child with a prominent peak eluting in the 'S' window on high-performance liquid chromatography (HPLC). Sickle solubility test, gel electrophoresis, and selective direct nucleotide sequencing of α1, α2, and β globin genes were performed on the patient's sample. In addition, previous HPLC results on a cord blood sample were retrieved. Sickle solubility test was negative. Gel electrophoresis revealed a band migrating at the S region with an extra faint band seen on acid gel electrophoresis. Molecular analysis of α2 globin gene revealed heterozygous state of Hb Handsworth. Hb Handsworth is a rare variant that can mimic HbS on HPLC. Failure to recognize this rare variant in regions where HbS is highly prevalent may result in serious misdiagnosis and subsequent incorrect genetic counseling.

Original languageEnglish
Pages (from-to)488-492
Number of pages5
JournalInternational Journal of Laboratory Hematology
Volume36
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

Globins
High performance liquid chromatography
Electrophoresis
Genes
Gels
High Pressure Liquid Chromatography
Solubility
Genetic Counseling
Missense Mutation
Diagnostic Errors
Fetal Blood
Blood
Nucleotides
Acids
hemoglobin Handsworth

Keywords

  • Handsworth
  • HbS
  • Hemoglobin
  • α globin variant

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical
  • Hematology
  • Medicine(all)

Cite this

Potential pitfalls in the diagnosis of Hb Handsworth in areas with high prevalence of HbS. / Al Zadjali, S.; Al-Riyami, A. Z.; Gravell, D.; Al Haddabi, H.; Al Rawahi, M.; Al Falahi, K.; Daar, S.

In: International Journal of Laboratory Hematology, Vol. 36, No. 4, 2014, p. 488-492.

Research output: Contribution to journalArticle

Al Zadjali, S. ; Al-Riyami, A. Z. ; Gravell, D. ; Al Haddabi, H. ; Al Rawahi, M. ; Al Falahi, K. ; Daar, S. / Potential pitfalls in the diagnosis of Hb Handsworth in areas with high prevalence of HbS. In: International Journal of Laboratory Hematology. 2014 ; Vol. 36, No. 4. pp. 488-492.
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