A New High Affinity Variant Hb Aurillac (β141Leu→Val)

Boursier, Guilaine; Trouillier, S.; Blaizot, Muriel Giansily; Igual, Hélène; Schved, Jean‐François; Martínez, Patricia

doi:10.3109/03630269.2013.811595

Cited by 1 publication

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“…Frequently, abnormal hemoglobin (Hb) arises from a point mutation that substitutes another amino acid residue for the original amino acid, which may affect the structure and function of the Hb molecule [1]. Sixty-nine percent of abnormal Hb in Japanese people exhibits a normal phenotype and no clinical manifestation [2], and many are found on Hb A 1c measurement by high performance liquid chromatography (HPLC) by inappropriately reduced or occasionally increased Hb A 1c levels [1,[3][4][5][6]. Thus, clinically silent Hb variants may remain undetected.…”

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confidence: 99%

A Coincidental Discovery of a New Stable Variant (Hb Hachioji orHBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin

et al. 2018

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We report a new hemoglobin (Hb) variant, Hb Hachioji (HBB: c.187C>T), which was detected in a 32-year-old male with hemolytic anemia. The proband had undergone splenectomy in his childhood after being diagnosed with hereditary spherocytosis (HS) with no clinical improvement. A recent study showed that Heinz bodies were frequently observed in his red cells, however, no abnormal band was separated by isoelectric focusing (IEF), and the isopropanol (instability) test was negative. Direct sequencing revealed that the proband was a heterozygous carrier of a novel mutation (GCT>GTT) at codon 62 of the β-globin gene, leading to an alanine to valine substitution. This variant was named Hb Hachioji. Characterization at the mRNA level by cDNA sequencing detected β mRNA, as well as β mRNA. Subsequently, study of the proband's family indicated that his father was a carrier of this Hb variant, although unexpectedly, the father was asymptomatic and clinically healthy. Oxygen affinity measurement of total Hb showed no alteration in the P and oxygen equilibrium curve. The presence of Hb Hachioji was confirmed by mass spectrometry (MS). Hb Hachioji comprised approximately 50.0% of the total Hb and was a stable variant. The phenotypic discrepancy between these two carriers suggests that Hb Hachioji may not be associated with the hemolytic involvement in the proband. P4.2Nippon, which is the primary cause of most cases of Japanese HS, was absent in the proband's parents. The coexistence of glucose-6-phosphate dehydrogenase (G6PD) deficiency was ruled out. Thus, the cause of hemolytic involvement in this patient remains unclear.

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