Hb Jeddah [α68(E17)Asn→His (α1)]

A newly recognized α chain variant, seen in combination with Hb S [β6(A3)Glu→Val], and found in three separate families of middle eastern origin

Karra M. Markley, Mohamed Elkhalifa, Archana Maini, James Hoyer

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We report a previously unrecognized α chain variant identified in three families from Saudi Arabia, Yemen and Abu Dhabi. The index patient presented for hemoglobinopathy screening and was identified to have both this novel α chain variant and Hb S [β6(A3)Glu→Val, GAG→GTG]. Hb Jeddah results from a point mutation (AAC→CAC) at codon 68 in exon 2 of the α1 gene. There were no apparent hematological abnormalities or clinical symptoms in the three individuals identified as heterozygotes for Hb Jeddah, as well as the index case with both Hb S and Hb Jeddah. As we have found this variant in three separate families, the incidence may be greater than currently recognized.

Original languageEnglish (US)
Pages (from-to)297-302
Number of pages6
JournalHemoglobin
Volume32
Issue number3
DOIs
StatePublished - May 1 2008

Fingerprint

Exons
Screening
Genes
Yemen
United Arab Emirates
Hemoglobinopathies
Saudi Arabia
Heterozygote
Point Mutation
Codon
Incidence

Keywords

  • α-Globin chain
  • Abnormal hemoglobin (Hb)

ASJC Scopus subject areas

  • Biochemistry
  • Hematology

Cite this

Hb Jeddah [α68(E17)Asn→His (α1)] : A newly recognized α chain variant, seen in combination with Hb S [β6(A3)Glu→Val], and found in three separate families of middle eastern origin. / Markley, Karra M.; Elkhalifa, Mohamed; Maini, Archana; Hoyer, James.

In: Hemoglobin, Vol. 32, No. 3, 01.05.2008, p. 297-302.

Research output: Contribution to journalArticle

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