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Hb East Timor [β80(EF4)Asn→His, AAC>CAC (HBB c.241A>C)], a variant hemoglobin associated with normal hematology

Jill Finlayson1, Reza Ghassemifar, Paula Holmes

  • 1Department of Hematology, PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, WA, Australia. Jill.Finlayson@health.wa.gov.au

Hemoglobin
|November 17, 2010
PubMed

Routine hemoglobin (Hb) analyses identified a new β-globin variant in a family from East Timor. The red cell indices were within normal limits for all affected family members. The variant is due to a missense mutation at amino acid codon 80 (AAC>CAC) which results in the substitution of histidine for asparagine.

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