Journal article
Hb A2 Hong Kong – A Novel δ-Globin Variant in a Chinese Family Masks the Diagnosis of β-Thalassemia Trait
Abstract
A 42-year-old Chinese woman (FP) was the mother of a patient with β-thalassemia major (β-TM) due to a compound heterozygosity for β(0)-thalassemia (β(0)-thal) mutations. She was also found to have a low Hb A(2) level of 1.6% by high performance liquid chromatography (HPLC) despite being a heterozygous carrier of the codons 41/42 (-TCTT) (HBB:c.126_129delCTTT) β(0)-thal mutation. Doubling the amount of hemolysate loaded for chromatography …
Authors
So C-C; Chan AYY; Luo H-Y; Verhovsek M; Chui DHK; Ling S-C; Chan L-C
Journal
Hemoglobin, Vol. 35, No. 2, pp. 162–165
Publisher
Taylor & Francis
Publication Date
4 2011
DOI
10.3109/03630269.2011.557172
ISSN
0363-0269