title: Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.
abstract: Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)], is a rare high oxygen affinity hemoglobin (Hb) variant that causes erythrocytosis, previously described in a few Mexican-American families. Here we report the first Chinese family with this Hb variant presenting with unexplained familial erythrocytosis. No evidence of hemolysis was seen. A locally adapted approach to the diagnostic process in clinical laboratories is discussed. Molecular analysis has an important role in confirmation of the diagnosis. Proper identification of this rare but clinically significant Hb variant is helpful for family counseling and will help to guide appropriate management of absolute erythrocytosis.
authors.affiliation: a Department of Anatomical and Cellular Pathology , Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong SAR , People's Republic of China .
authors.forename: Ka Ling Rosalina
authors.initials: KL
authors.lastname: Ip
authors.affiliation: b Department of Pathology , Li Ka Shing Faculty of Medicine, The University of Hong Kong , Hong Kong SAR , People's Republic of China .
authors.forename: Jason Chi-Chiu
authors.initials: JC
authors.lastname: So
authors.affiliation: c Department of Medicine and Therapeutics , Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong SAR , People's Republic of China.
authors.forename: Man-Fai
authors.initials: MF
authors.lastname: Law
authors.affiliation: c Department of Medicine and Therapeutics , Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong SAR , People's Republic of China.
authors.forename: Raymond S M
authors.initials: RS
authors.lastname: Wong
authors.affiliation: c Department of Medicine and Therapeutics , Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong SAR , People's Republic of China.
authors.forename: Ho Chi
authors.initials: HC
authors.lastname: Tam
authors.affiliation: a Department of Anatomical and Cellular Pathology , Prince of Wales Hospital, The Chinese University of Hong Kong , Hong Kong SAR , People's Republic of China .
authors.forename: Margaret H L
authors.initials: MH
authors.lastname: Ng
mesh_terms: D044466:Asian People; D019411:Clinical Laboratory Techniques / Q000379:methods; D006455:Hemoglobins, Abnormal; D006801:Humans; D025202:Molecular Diagnostic Techniques; D010375:Pedigree; D011086:Polycythemia / Q000151:congenital* / Q000209:etiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C030900:hemoglobin Tarrant
keywords: Chinese; Hb Tarrant; erythrocytosis; high oxygen affinity hemoglobin (Hb)