Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry.

Abstract

The first identification of haemoglobin Le Lamentin ( 20 (B 1 ) His → Gln) in a British patient is described. The patient was a 69 year old asymptomatic white male being screened for diabetes, whose blood was undergoing its first ever analysis for glycated haemoglobin using a Glycomat II analyser. Identification of the haemoglobin variant was by electrospray mass spectrometry. (J Clin Pathol 1998;51:467-470)

High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants

“…(2003). However, we agree with the reported statement (Reynolds et al. , 2002) that considerable expertise is needed for the interpretation of mass spectra.…”

First Report of Hemoglobin Le Lamentin [Alpha 20 (B1) His → Gln] in the Alpha1 Globin Gene in an Indian Patient and a Brief Update

“…Since the histidine to glutamine substitution at codon 20 in Hb Le Lamentin is reported to be present in an external residue of the hemoglobin molecule, it is not known to cause any change in the physiological function of the hemoglobin. This variant has been previously reported in a black family in French West Indies (Martinique) [6], and Spanish [3], Japanese [7] and British families [5,8]. This is the first report of this rare variant in Indian population.…”

Increasing recognition of haemoglobin Le Lamentin

“…4 Using a similar technique for HbA 1c , we have also found a case in the UK. The patient is a 46 year old diabetic woman with a plasma glucose of 11.2mmol/litre and HbA 1c of 5.5% (reference range, 3.8-5.5%), with a haemoglobin trace on a Menarini HA-8121 analyser that exhibited an unusual early eluting fraction.…”

“…Therefore, we subjected the blood sample to electrospray ionisation tandem mass spectrometry, as described previously. 4 This revealed that the patient was heterozygous for the Le Lamentin mutation involving substitution of histidine by glutamine at position 20 on one of the -chains of haemoglobin. Although the patient's family is based in the north west of England, she says there is a link with Romany gypsies several generations ago, but we did not feel there was suYcient clinical justification for a detailed family study.…”