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 D. Hoyer

doi:10.1080/03630260701758908

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 D. Hoyer

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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 language	English (US)
Pages (from-to)	297-302
Number of pages	6
Journal	Hemoglobin
Volume	32
Issue number	3
DOIs	https://doi.org/10.1080/03630260701758908
State	Published - May 2008

Keywords

Abnormal hemoglobin (Hb)
α-Globin chain

ASJC Scopus subject areas

Hematology
Genetics(clinical)
Clinical Biochemistry
Biochemistry, medical

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10.1080/03630260701758908

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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 et al.
In: Hemoglobin, Vol. 32, No. 3, 05.2008, p. 297-302.

Research output: Contribution to journal › Article › peer-review

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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.",

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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

Abstract

Keywords

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